Vol 3, Supplement 2 (September 2015): Annals of Translational Medicine (11th Asia Pacific Conference on Human Genetics)

Abstracts

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Editorial Team

Part 1: Plenary

AB001. The path to genomic medicine
Gail P. Jarvik
AB002. The rare and undiagnosed diseases diagnostic service
Gareth Baynam, Nicholas Pachter, Fiona McKenzie, Sharon Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Stephanie Broley, Lyn Schofield, Caroline Graham, Kym Mina, John Beilby, Mark Davis, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
AB003. The path towards translational medicine for common reproductive diseases
Grant W. Montgomery
AB004. Genetic testing for individuals with developmental disabilities and congenital anomalies: choosing between chromosomes, DNA microarrays, and next generation sequencing platforms
Kathleen Leppig
AB005. Genomics on site of detection of malaria
Sumio Sugano, Junya Yamagishi, Arthur E. Mongan, Joesf Tuda, Yutaka Suzuki
AB006. Personalized and precision medicine: are we there yet?
Meow-Keong Thong
AB007. Genomic medicine: impact of rare disease research on medicine and health care
Yoichi Matsubara

Part 2: Symposium

AB008. SEPARATION and identification glycoprotein in human Fragile X syndrome serum
Anh Luong, Hoan Thi Phan, Chi Van Phan
AB009. Targeting the stratification of neuroblastoma: clinical and biological challenges
Chi-Bao Bui, Ha-Giang Thi Nguyen, Kim-Hoa Thi Le, Hong-Ngoc Vo Le, Kieu-Diem Dinh Truong, Quynh-Nhu Nhat Nguyen, Thanh-Niem Van Vo, Dinh-Van Nguyen, Thanh-Huyen Thi Nguyen, David Kelsell
AB010. Newborn screening worldwide: when and where is molecular testing a part of the screening protocol
Bradford Therrell
AB011. Preimplantation genetic diagnosis—experience from Hong Kong
Brian Hon-Yin Chung
AB012. Applying whole exome sequencing (WES) to solve undiagnosed diseases in children in Hong Kong
Brian Hon-Yin Chung
AB013. Long-range modulation of PAG1 expression by 8q21 allergy risk variants
C.T. Vicente, S.L. Edwards, K.M. Hillman, S. Kaufmann, H. Mitchell, D.M. Glubb, J.S. Lee, L. Bain, J.D. French, M.A.R. Ferreira
AB014. Expanding newborn screening and the initiation of regional follow-up in the Philippines
Carmencita Padilla
AB015. Very early for pompe disease contribute to better outcomes: 7-year cohort study in Taiwan
Chia-Feng Yang
AB016. Developing diagnostic strategy of multiple congenital anomalies in Indonesia
Damayanti Rusli Sjarif, Yulia Ariani Aswin
AB017. The extended newborn screening by tandem mass in Taiwan—results from two national newborn screening centers: Taipei Institute of Pathology & Chinese Foundation of Health
Dau-Ming Niu, Chuan-Chi Chiang, Hui-Chen Ho
AB018. Revisited later-onset cardiac type Fabry disease—cardiac damages progressed in silence—experiences from an extremely high prevalent area, Taiwan
Dau-Ming Niu, Ting-Rong Hsu, Chia-Feng Yang, Tzu-Hung Chu, Chuan-Chi Chiang, Hui-Chen Ho
AB019. Osteogenesis imperfecta 2015: new genes, new treatments—an Asia pacific perspective
David Sillence
AB020. What is advance in molecular diagnosis for 46,XY and 46,XX testicular disorder of sex development?
Vũ Chí Dũng, Nguyễn Ngọc Khánh, Bùi Phương Thảo, Cấn Thị Bích Ngọc, Nguyễn Phú Đạt, Le Anh Dung, Masafumi Kon, Maki Igarashi, Maki Fukami
AB021. Epigenetics and disease—lessons from imprinting disorders
Emma Baple
AB022. Harnessing big data to transform clinical care of cardiovascular diseases
Eva Maria Cutiongco-de la Paz
AB023. Problem in the prevention and control of thalassaemia in Asia
Hai-Yang Law
AB024. Chromosome microarray analysis (CMA) for the diagnosis of children with developmental delay and multiple congenital anomalies in Singapore
Hai-Yang Law, Maggie Brett, Ene-Choo Tan, Min-Hwee Yong, Angeline Lai
AB025. Genome technology applications for perinatal diagnosis and fetal medicine in China
Haitao Yang
AB026. SCN1A mutational analysis in 20 Vietnamese children with Dravet syndrome
Thi-Thu-Hang Do, Thieu-Mai-Thao Le, Chi-Bao Bui, Diem-My Vu
AB027. Developing capacity for variant data sharing in low and middle income countries: HVP’s Global Globin 2020 Challenge
Helen M. Robinson
AB028. Identifying the functional role of VEZT gene for endometriosis risk
Hien TT. Luong, Jodie N. Painter, Yadav Sapkota, Dale R. Nyholt, Peter A. Rogers, Grant W. Montgomery
AB029. Next generation sequencing analysis in hereditary muscle diseases
Ichizo Nishino
AB030. The evolving role of genetic counseling
Kathleen Leppig, Darci Sternen, Jennifer Thompson, Mercy Laurino
AB031. Spectrum of IEMs in Vietnamese patients: data from 10 years of selected screening and diagnosis
Vu Chi Dung, Nguyễn Ngọc Khánh, Nguyen Chi Mai, Bùi Thị Hương, Bui Phuong Thao, Can Thi Bich Ngoc, Nguyen Thi Hoan, Le Thanh Hai, Khu Thi Khanh Dung, Toshiyuki Fukao, Seiji Yamaguchi
AB032. Mutation spectrum in the dystrophin gene disclosed by multiplex ligation-dependent probe amplification in 181 Vietnamese Duchenne/Becker muscular dystrophy patients
Van Khanh Tran, Ngoc Hai Do, Thinh Huy Tran, Minh Hieu Ta, Le Anh Tuan-Pham, Dung Vu Chi, Nguyen Ngoc Khanh, Van Thanh Ta, Masafumi Matsuo
AB033. Preimplantation genetic diagnosis of spinal muscular atrophy in Vietnam
Tran Van Khoa, Nguyen Thi Thanh Nga, Nguyen Dinh Tao, Trieu Tien Sang, Ngo Truong Giang, Vu Chi Dung
AB034. Hemoglobinopathies in China and SEA: rapid targeted deep sequencing for molecular screening and clinical genotyping in subjects with hemoglobinopathies
Ming Qi
AB035. Thalassemia in Vietnam
Hoang Nam Nguyen
AB036. Analysis of human mitochondrial genome mutations of Vietnamese patients tentatively diagnosed with encephalomyopathy
Phan Tuan Nghia, Trinh Hong Thai, Truong Thi Hue, Nguyen Van Minh, Phung Bao Khanh, Tran Duc Hiep, Tran Kieu Anh, Nguyen Thi Hong Loan, Nguyen Thi Hong Van, Pham Van Anh, Cao Vu Hung, Le Ngoc Anh
AB037. Inhibition of extracellular signal-regulated kinase pathways by U0126 enhances osteogenic differentiation of bone marrow-derived multipotent mesenchymal stem cells via cross-talk with p38 pathway
Thi Kim Phuong Doan, Kyung Soon Park, Hyung Keun Kim, Dae Sung Park, Ji Hyun Kim, Taek Rim Yoon
AB038. NGS-based diagnostics for genetic disorders—promises and pitfalls
Poh-San Lai
AB039. Thailand national plan for prevention and care of birth defects and disabilities
Pornswan Wasant
AB040. Biomarkers for Autism: where are we now and what will the future bring?
Richard P. Ebstein, Poh San Lai
AB041. Genetic diversity of organic and fatty acid disorders detectable in expanded newborn screening in Asian countries
Seiji Yamaguchi, Toshiyuki Fukao, Dũng Vũ Chí, Nhan Nguen Thu
AB042. Therapies for the bone in mucopolysaccharidoses
Shunji Tomatsu
AB043. Nanopore sequencing for genotyping Dengue virus
Sumio Sugano, Junya Yamagishi, Arthur E. Mongan, Joesf Tuda, Yutaka Suzuki
AB044. Update in the management of thalassemia
Suthat Fucharoen, Kittiphong Paiboonsukwongi
AB045. Molecular markers for disease severity in beta thalassemia/Hb E disease
Suthat Fucharoen, Pranee Winichagoon, Thongperm Munkongdee, Orapan Sripichai, Saovaros Svasti
AB046. X-linked dilated cardiomyopathy: the dystrophinopathy in a Thai family
Thanyachai Sura, Thossaporn Morasert, Polawat Khemthong, Atchara Tunteeratum, Kanchit Likitthanasombat, Donniphat Dejsuphong, Jakris Eu-ahsunthornwattana
AB047. Acquired resistance to epidermal growth factor receptor tyrosine kinase inhibitors by the EGFR T790M mutation in a non-small cell lung cancer patient in Vietnam
Le Hoan, Nguyen Minh Ha, Tran Van Khanh, Ngo Quy Chau, Ta Thanh Van, Tran Huy Thinh
AB048. X-chromosomal SNPs variation in populations of Russia
Vadim Stepanov, Kseniya Vagaitseva, Vladimir Kharkov
AB049. Aldehyde dehydrogenases: from cancer stem cells to inborn errors of metabolism
Vasilis Vasiliou
AB050. Building population-specific reference genomes: a case study of Vietnamese reference genome
Nguyen Dai Thanh, Pham Thi Minh Trang, Dang Thanh Hai, Nguyen Ha Anh Tuan, Le Si Quang, Bui Quang Minh, Dao Quang Minh, Pham Bao Son, Le Sy Vinh
AB051. Regulation of IL-2 production through ERK/NFATc3 signalling pathway by A20 in dendritic cells
Nguyen Thi Xuan, Nguyen Van Phong, Xu Wang, Dirk Schluter, Nong Van Hai
AB052. The Human Variome Project (HVP) and the HVP ASEAN Node
Zilfalil Bin Alwi

Part 3: Lunch symposium

AB053. Role of inflammation in the mucopolysaccharidoses & review of recent therapies
Edward H. Schuchman
AB054. Overview of multi-gene panels for hereditary cancer
Emily Dalton, Jennifer Thompson
AB055. The new meaning of translational genomics & developing consensus on best practices for areas critical to enabling precision medicine
Carol Isaacson Barash

Part 4: Oral/poster

AB056. Establishing the procedure for detection of gr/gr deletions on the Y chromosome in Vietnamese infertile men
Trâm Bảo Nguyễn, Ngọc-Anh Thị Nguyễn, Thảo-Trang Nguyễn Phạm, Trung Tấn Nguyễn
AB057. Wilson disease in children clinical and laboratory manifestations
Hoang Thi Van Anh, Nguyen Pham Anh Hoa
AB058. Newborn screening in preterm babies at the Newborn Screening Center-National Institutes of Health, Manila: impact, implications, and outcomes on its first year of implementation
April Grace Dion-Berboso, Alpha Grace Cabic, Isabel Carluen-Nario, Geralyn Valeza, Maria Melanie Liberty Alcausin
AB059. The clinical profile and factors influencing loss to follow-up on the use of repeat otoacoustic emissions (OAE) and auditory brainstem response (ABR) among infants with refer results on newborn hearing screening at Cebu Doctors’ University Hospital
Ana Noelle M. Dominguez, Barbra Charina V. Cavan
AB060. A4164G alteration of mitochondrial MT-ND1 gene in a Vietnamese patient group with colorectal cancer
Pham Thi Bich, Hoang Thi Chang, Do Minh Ha, Ta Van To, Trinh Hong Thai
AB061. Screening of thalassemia in the Philippines
Catherine Lynn Silao, Terence Fabella, Ernesto Yuson, Ma. Liza Naranjo, Carmencita Padilla
AB062. Identification of disease susceptibility genes in Filipino SSPE patients
Catherine Lynn Silao, Marissa Lukban, Aida Salonga, Benilda Sanchez-Gan, Martha Lu, Judy Pipo-Deveza, Jose Nevado
AB063. Prevalence of thalassemias and hemoglobinopathies detected via high performance liquid chromatography in Filipinos
Catherine Lynn Silao, Terence Diane Fabella, Ernesto Yuson, Maria Liza Naranjo, Carmencita Padilla
AB064. Autosomal recessive diseases caused by a rare mechanism: uniparental disomy
Ya-Chi Chen, Shu-Chen Hsiel, Ju-Shan Pai, Tzu-Hung Chu, Dau-Ming Niu
AB065. MDM2 SNP309 polymorphism and lung cancer risk
Tran Khanh Chi, Tran Huy Thinh, Nguyen Thi Ha, Tran Van Khanh, Ta Thanh Van
AB066. Pseudohomozygous familial hypercholesterolemia has better outcome than homozygous familial hypercholesterolemia
Chun-Yu Yen, Tzu-Hung Chu, Chia-Feng Yang, Dau-Ming Niu
AB067. Glucose tetrasaccharide (Glc4) level in urine sample as a biomarker for Pompe patients
Chun-Kai Huang, Hsuan-Chieh Liao, Yu-Ping Hsieh, Ya-Chi Chen, Chia-Feng Yang, Dau-Ming Niu
AB068. Association between MTHFR C677T and carotid intima medial thickness progression in post-ischemic stroke patient
Dodik Tugasworo Pramukarso, Sultana MH Faradz, Stefani Harum Sari, Suharyo Hadisaputro
AB069. Effect of osteogenesis imperfecta on children and their families
Vu Chi Dung, Kate Armstrong, Can Thi Bich Ngoc, Bui Phuong Thao, Nguyen Ngoc Khanh, Nguyen Thu Trang, Nguyen Thi Hoan, Nguyen Phu Dat, Craig Munns
AB070. Mutations of SRD5A2 in Vietnamese patients: phenotype and genotype
Vu Chi Dung, Bui Phuong Thao, Nguyen Ngoc Khanh, Can Thi Bich Ngoc, Maki Fukami
AB071. Mutations of AR gene in Vietnamese patients: genotype and phenotype
Vu Chi Dung, Maki Fukami, Can Thi Bich Ngoc, Bui Phuong Thao, Nguyen Ngoc Khanh, Pham Thu Nga, Nguyen Phu Dat, Tsutomu Ogata
AB072. Novel mutation in the hepatocyte nuclear factor 1b/maturity-onset diabetes of the young type 5 gene—unreported Vietnamese case
Vu Chi Dung, Bui Phuong Thao, Can Thi Bich Ngoc, Nguyen Ngoc Khanh, Sian Ellard
AB073. Mutations in the type II 3β-hydroxysteroid dehydrogenase gene caused primary adrenal insufficiency & 46,XY disorders of sex development
Vu Chi Dung, Bui Phuong Thao, Nguyen Ngoc Khanh, Can Thi Bich Ngoc, Yves Morel
AB074. Registry of congenital adrenal hyperplasia at the north pediatric referral centre of Vietnam during 15 years
Vu Chi Dung, Bui Phuong Thao, Can Thi Bich Ngoc, Nguyen Ngoc Khanh, Nguyen Phu Dat, Nguyen Thi Hoan, Do Thanh Mai, Bui Thi Huong
AB075. Mutations of WT1 gene caused 46,XY disorder of sex development and Wilms’ tumor
Vu Chi Dung, Bui Phuong Thao, Le Thanh Hai, Maki Fukami
AB076. Congenital hyperinsulinism due to mutation of HNF4A: a case report
Dang Anh Duong, Vu Chi Dung, Nguyen Phu Dat, Can Thi Bich Ngoc, Bui Phuong Thao, Nguyen Ngoc Khanh, Tran Minh Dien
AB077. Clinical symptoms, molecular genetics, genotype and phenotype correlations of children with congenital hyperinsulinism
Dang Anh Duong, Vu Chi Dung, Nguyen Phu Dat, Can Thi Bich Ngoc, Bui Phuong Thao, Nguyen Ngoc Khanh, Tran Minh Dien
AB078. Novel mutation of ABCC8 and KCNJ11 of children with congenital hyperinsulinism
Dang Anh Duong, Vu Chi Dung, Nguyen Phu Dat, Can Thi Bich Ngoc, Bui Phuong Thao, Nguyen Ngoc Khanh, Khanh Dien
AB079. Phenotype variation in untreated 46,XX congenital adrenal hyperplasia
Sultana MH Faradz, Agustini Utari, Annastasia Ediati, Mahayu Dewi Ariani, Achmad Zulfa Juniarto
AB080. Genetic findings provide insight of biliary atresia patient complexity
Guo Cheng, Maria-Mercè Garcia-Barceló, Patrick Ho-Yu Chung, Wai-Kiu Tang, Emily Hoi-Man Wong, Edwin Kin-Wai Chan, Man-Ting So, Diem Ngoc Ngo, Ngoc Son Tran, Pham Anh Hoa Nguyen, Pak-Chung Sham, Stacey S. Cherny, John M. Nicholls, Paul Kwong-Hang Tam
AB081. Acute encephalopathy in Dravet syndrome: two case reports and discussion of risk factors
Thi-Thu-Hang Do, Thi-Thuy-Kieu Huynh, Thi-Khanh-Van Le
AB082. Phenotype and genotype of Vietnamese patients with mucopolysaccharidosis II: first case series report
Le Thi Thuy Hang, Vu Chi Dung, Shunji Tomatsu, Nguyen Thi Yen, Trinh Thanh Hung, Can Thi Bich Ngoc, Ngoc Khanh Nguyen, Wuh-Liang Hwu, Gu-Hwan Ki, Han-Wook Yoo
AB083. A cause of cholestasis and hepatic failure in children: neonatal intrahepatic cholestasis cause by citrin deficiency
Nguyen Pham Anh Hoa, Nguyen Mai Huong, Nguyen Thu Nhan, Gia Khanh Nguyen
AB084. Cause of death and clinical characteristics of 34 mortality patients with mucopolysaccharidosis II in Taiwan, 1995-2012
Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Shuan-Pei Lin
AB085. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance
Hui Bein Chew, Winnie Peitee Ong, Muzhirah Aisha Md Haniffa, Huey Yin Leong, Thurga Krishnan, Rozaida Yuen Ying Poh, Meow Keong Thong, Mohd Taufik Ishak, Wee Teik Keng
AB086. Chromosomal microarray analysis—detection of both duplication and deletion in patients with multiple congenital anomalies and/or developmental delay
Hui Jing Ee, Hui Yi Yon, Mui Li Tan, Robin Roch, Maggie Brett, Min Hwee Yong, Hai Yang Law, Angeline Lai
AB087. Most common SLC25A13 mutation in 695 Vietnamese patients with NICCD
Thi Mai Hương Nguyen, Thi Phương Mai Nguyen, Ngo Diem Ngoc, Nguyen Pham Anh Hoa
AB088. Mutation analysis of 16 Vietnamses Wilson patients
Thi Mai Hương Nguyen, Ngo Diem Ngoc, Thi Phương Mai Nguyen, Nguyen Pham Anh Hoa, Trần Vân Khánh, Tạ Thành Văn, Phan Van Chi
AB089. Postnatal and prenatal diagnosis for neonatal intrahepatic cholestasis caused by citrin deficiency
Thi Mai Huong Nguyen, Thi Phuong Mai Nguyen, Ngo Diem Ngoc, Nguyen Pham Anh Hoa
AB090. Molecular diagnosis outcome of Duchenne muscular dystrophy gene after 10 years in Vietnam
Thi Mai Huong Nguyen, Ngo Manh Tien, Thi Phuong Mai Nguyen, Ngo Diem Ngoc, Vu Chi Dung, Thanh Hai Le
AB091. Analysis of LA2 as a functional candidate gene for Emery Dreifuss muscular dystrophy and dilated cardiomyopathy
Le Thi Thanh Huong, Juliane Braun, Ursula Pilat, Roland Foisner, Manfred Wehnert
AB092. Regional IBD analysis (RIA): a new method for linkage analysis in extended pedigrees using genome-wide SNP data
Jakris Eu-ahsunthornwattana, Richard A. J. Howey, Heather J. Cordell
AB093. A case of exogenous C5-acylcarnitine giving rise to a false positive result in newborn screening (NBS)
Shu Jun Yeo, Ee Shien Tan, Jamuar Saumya, Sherry Poh, James Lim
AB094. Efficacy of combined preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) cycles—early results
James Marshall, Kasorn Tiewsiri, Piyarat Thaijaroen, Pongpet Benjaponwattana, Sarinee Pingsuthiwong, Tanarut K. Jantapanon, Poramate Jiaranai
AB095. Comparison pregnancy of day 6 fresh blastocyst and day 5 frozen-thawed blastocyst transfer following array comparative genome hybridization (aCGH)
Piyarat Thaijaroen, Pongpet Benjaponwattana, Poramate Jiaranai, James Marshall, Kasorn Tiewsiri
AB096. Pharmaco-genetic guided personalized medicine: discovery of a maturity onset diabetes of the young (MODY2) novel mutation [S441W in glucose kinase (GCK) gene] by next generation sequencing (NGS)
Tan Si Hua Clara, Ang Su Fen, Fong Choi Wan Jessie, Yeoh Chai Kheng Ester, Tavintharan Subramaniam, Sum Chee Fang, Lim Su Chi
AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome
Jiin Ying Lim, Saumya Shekhar Jamuar, Breana Wen Min Cham, Maggie Brett, Ee Shien Tan, Ivy Ng, Hai Yang Law, Ene Choo Tan, Angeline Hwei Meeng Lai
AB098. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population
Ju-Shan Pai, Ya-Chi Chen, Shu-Chen Hsie, Chia-Feng Yang, Dau-Ming Niu
AB099. Beta ketothiolase deficiency: phenotype and genotype in Vietnam population
Khanh Ngoc Nguyen, Dung Chi Vu, Toshiyuki Fukao, Thao Phuong Bui, Ngoc Thi Bich Can, Hoan Thi Nguyen, Seiji Yamaguchi
AB100. Phenotypes of primary hyperlipidemia in a Vietnamese referral center
Khanh Ngoc Nguyen, Dung Chi Vu, Thao Phuong Bui, Ngoc Thi Bich Can, Hoan Thi Nguyen, Dat Phu Nguyen
AB101. Neonatal form of Isovaleric acidemia in Vietnamese patients: clinical history and outcomes
Khanh Ngoc Nguyen, Dung Chi Vu, Ngoc Thi Bich Can, Thao Phuong Bui, Mai Chi Nguyen, Seiji Yamaguchi
AB102. Vietnamese patient with Tyrosinemia type 1: a case report
Khanh Ngoc Nguyen, Dung Chi Vu, Ngoc Thi Bich Can, Thao Phuong Bui, Mai Chi Nguyen, Seiji Yamaguchi
AB103. Phenotype and genotype of urea cycle defect in a Vietnamese referral center
Khanh Ngoc Nguyen, Huong Thi Bui, Dung Chi Vu, Ngoc Thi Bich Can, Thao Phuong Bui, Mai Chi Nguyen, Hung Viet Daut, Tuan Anh Dang, Seiji Yamaguchi, Gu-Hwan Kim, Han Wook Yoo
AB104. Glucose-6 phospate dehydrogenase deficiency among mongolian neonates
Khishigjargal Batjargal, Gerelmaa Nansal, Gerelmaa Zagd, Erdenetuya Ganbaatar
AB105. Novel large mitochondrial DNA deletions in pediatric patients with clinical features of mitochondrial disorders
Le Lan Phuong, Pham Thi Van Anh, Luu Huyen Trang, Nguyen Thi Sen, Lê Ngoc Anh, Cao Vu Hung, Trinh Hong Thai
AB106. The role of apolipoprotein E polymorphism in dyslipidemic obese adolescents who received the intervention of physical exercise and National Cholesterol Education Program step II
Lanny C. Gultom, Sri R.S. Hadinegoro, Damayanti R. Sjarif, Herawati A. Sudoyo, Suzanna Immanuel, Muchtaruddin Mansyur, Mexitalia Setiawati
AB107. Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country
Leniza De Castro-Hamoy, Mary Anne Chiong, Sylvia Estrada, Cynthia Cordero
AB108. The appliance of Bio-Plex immunoassay using dried blood spots for mucopolysaccharidosis IVA newborn screening in Taiwan—a pilot study
Chia-Hui Lin, Chih-Kuang Chuang, Hsiang-Yu Lin, Tuen-Jen Wang, Chia-Chen Tsai, Shuan-Pei Lin
AB109. Noninvasive prenatal testing (NIPT): differences in testing indications between the US and Southeast Asia
Lindsay Fosler
AB110. Novel alteration of mitochondrial tRNATrp in a group of Vietnamese breast cancer patients
Linh Thi Tu Nguyen, My Thi Tra Quach, Dung Thi Do, Ha Minh Do, To Van Ta, Thai Hong Trinh
AB111. HBB: c. -78A>G/nt-28(A>G) associated with Cd 26(A-G) HbE, beta thalassemia variant causes thalassemia intermedia
Thi Thanh Ha Ly, Ngoc Diem Ngo, Nhung Tuyet Ngo, Mai Thi Phuong Nguyen, Huong Thi Mai Nguyen, Truc Ba Duong
AB112. Detection of human sperm DNA fragmentation by alkaline comet and neutral comet improved by research center for genetics and reproductive health (CGRH)
Ma Pham Que Mai, Nguyen Thi Thuy An, Nguyen Truong Thai Ha, Nguyen Bao Tram, Nguyen Hong Quoc Bao, Ho Manh Tuong
AB113. The first genetic study on congenital choledochal dilatation (CCD) implicates extracellular matrix proteins
Maria-Mercè Garcia-Barceló, John Kwong Leong Wong, Ngoc Diem Ngo, Ngoc Son Tran, Thanh Liem Nguyen, Liem Nguyen, Pak Sham, Stacey Cherny, Paul Tam
AB114. Change in bone mineral density of patients with osteogenesis imperfecta after 6 months of pamidronate therapy in the philippine general hospital: a retrospective review
Mary Ann Abacan, Ryan Albert Leonard Boquiren, Imarzen Elepano, Maria Melanie Alcausin
AB115. Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features
Mary Anne D. Chiong, Cynthia P. Cordero, Esphie Grace D. Fodra, Judy S. Manliguis, Cristine P. Lopez, Leslie Michelle M. Dalmacio
AB116. Germline mutations of Syk gene associated with breast cancer pathogenesis
Muslima Hussain, Siti Nur Idayu Haji Matusin, Mohamad Zubair, Mas Rina Wati Haji Abdul Hamid
AB117. An exploration of Australasian genetic counsellors’ attitudes towards compassion fatigue, mindfulness and genetic counselling
Matthew Burgess, Geneieve Tai, Nathalie Martinek, Melody Menezes, Martin Delatycki
AB118. Validation of next generation sequencing by Sanger sequencing
Meow Hong Wendy Low, Hwei Meeng Angeline Lai, Saumya Shekhar Jamuar, Hai Yang Law
AB119. Induction of suppressor of cytokine signaling-3 in FLT3-ITD positive MV4-11 acute myeloid leukemia cells in response to 5-Azacytidine and Trichostatin A
Muhammad Farid Johan, Siti Asmaa Mat Jusoh
AB120. Correlation of genotype with biochemical profile in patients with Glutaric Acidemia type I: a study from India
Muntaj Shaik, A. B. Vedumurthy, T. P. Kruthika-Vinod
AB121. NAT2 sequence polymorphisms and acetylation profiles in Indians
Naazneen Khan, Aparup Das
AB122. Profiling the serine threonine kinase phosphorylation of TGF-β1 stimulated fibroblast using peptide microarray
Nauphar Donny, Faradz Sultana, Micha Dimitra, Sistermans Erik, Pals Gerard
AB123. Carrier screening and prenatal diagnosis for α- and β-thalassemia in pregnancies at risk in National Hospital of Pediatrics, Vietnam
Diem Ngoc Ngo, Thi Thanh Ha Ly, Thi Tuyet Nhung Ngo, Thi Phuong Mai Nguyen, Thi Hong Ha Tran, Ba Truc Duong, Danh Cuong Tran, Thi Thanh Thuy Le, Thanh Hai Lê, Thi Thanh Huong Tran
AB124. Mucolipidosis type II: clinical features and laboratories
Ngoc Thi Bich Can, Dung Chi Vu, Thao Phuong Bui, Khanh Ngoc Nguyen, Wuh-Liang Hwu
AB125. Neonatal diabetes mellitus due to insulin gene mutation
Ngoc Thi Bich Can, Dung Chi Vu, Thao Phuong Bui, Khanh Ngoc Nguyen, Dat Phu Nguyen, Maria Craig, Sian Ellard, Hoan Thi Nguyen
AB126. Enzyme replacement therapy in patient with mucopolysaccharidosis type I: a case report
Ngoc Thi Bich Can, Dung Chi Vu, Hang Thi Thuy Le, Khanh Ngoc Nguyen, Huong Thi Bui
AB127. Enzyme replacement therapy in patient with mucopolysaccharidosis type II: a case report
Ngoc Thi Bich Can, Dung Chi Vu, Hang Thi Thuy Le, Khanh Ngoc Nguyen, Huong Thi Bui
AB128. Neonatal diabetes mellitus: genotype, phenotype and outcome
Ngoc Thi Bich Can, Dung Chi Vu, Thao Phuong Bui, Khanh Ngoc Nguyen, Sarah Flanagan, Sian Ellard, Maria Craig, Dat Phu Nguyen, Hoan Thi Nguyen
AB129. Osteogenesis imperfecta: clinical features and bisphosphonate treatment outcome
Ngoc Thi Bich Can, Dung Chi Vu, Thao Phuong Bui, Khanh Ngoc Nguyen
AB130. Pseudoaldosteronism due to mutation of SCNN1A gene: a case report
Ngoc Thi Bich Can, Dung Chi Vu, Thao Phuong Bui, Khanh Ngoc Nguyen, Maria-Christina Zennaro, Stefan A. Wudy
AB131. Genotype, phenotype of transient neonatal diabetes mellitus
Ngoc Thi Bich Can, Dung Chi Vu, Thao Phuong Bui, Khanh Ngoc Nguyen, Dat Phu Nguyen, Maria Craig, Andrew Hattersley, Hoan Thi Nguyễn
AB132. Neonatal diabetes in Wolcott-Rallison syndrome: a case report
Ngoc Thi Bich Can, Dung Chi Vu, Sarah Flanagan, Sian Ellard
AB133. SmartLabs—a solution to healthcare
Niby J. Elackatt, Harsha K. Rajasimha
AB134. Trimethylaminuria: report of two cases in Ramathibodi hospital
Nutnicha Girdwichai, Polawat Khemthong, Atchara Tunteeratum, Donniphat Dejsuphong, Jakris Eu-Ahsunthornwattana, Thanyachai Sura
AB135. The numerical chromosomal abnormalities in prenatal screening and diagnosis by QF-PCR
T. H. Oanh Quach, K. Y. Trang Bui, T. N. Hoang Nguyen, N. A. Phu Tran, T. L. Anh Nguyen
AB136. Arthrogryposis, renal dysfunction, cholestasis (ARC) syndrome
Bui Kim Oanh, Nguyen Pham Anh Hoa
AB137. Preimplantation genetic diagnosis for rare monogenic disorder: a lesson from pantothenate kinase-associated neurodegeneration
Objoon Trachoo, Chonthicha Satirapod, Bhakbhoom Panthan, Matchuporn Sukprasert, Angkana Charoenyingwattana, Wasun Chantratita, Wiharn Choktanasiri, Suradej Hongeng
AB138. Next-generation sequencing as a tool for molecular diagnosis of hypertrophic and dilated cardiomyopathies in Thai patients
Objoon Trachoo, Bhakbhoom Panthan, Paisan Jittorntam, Sithakom Phusanti, Anucha Mukdadilok, Sasima Srisukh, Pattarana Sae-Chew, Angkana Charoenyingwattana, Ekawat Pasomsub, Prin Vathesatogkit, Wasun Chantratita, Tarinee Tangcharoen
AB139. The role of CD44 in the osteoblastic differentiation from mesenchymal stem cells
Doan Thi Kim Phuong, Taek Rim Yoon, Hyung Keun Kim, Eui Seung Lee
AB140. Ten years experiences of diagnosis spinal muscular atrophy using molecular techniques
Thi Phuong Mai Nguyen, Thi Mai Huong Nguyen, Manh Tien Ngo, Thi Thanh Ha Ly, Thi Tuyet Nhung Ngo, Thuy Lan An, Dinh Quang Vu, Xuan Huy Nguyen, Diem Ngoc Ngo, Phuong Thao Bui, Ngoc Khanh Nguyen, Chi Dung Vu, Danh Cuong Tran
AB141. Multiplex PCR-based procedure establishment for simultaneous detection of two mutations occurring most frequently in FMS-like tyrosine kinase-3
Huyen T. Tran, Yen Pham, Phuong L. Trinh
AB142. Clinical, biochemical and growth hormone receptor polymorphism profile of children with short stature presenting to a tertiary care centre
Pratiksha Singh, Divij Pasrija, Sunil Polipalli, Sumaira Khalil, Seema Kapoor
AB143. Berardinelli-Seip congenital lipodystrophy and its diagnostic implications
Premala Muthukumarasamy, Meow Keong Thong
AB144. Study on the relationship between MYCN status and other prognostic factors in 41 patients with neuroblastoma
Dinh Quang Vu, Thi Hong Van Nguyen, Tuyet Lan Phung, Ngoc Son Tran, Dinh Cong Le, Ngoc Thach Hoang, Tran Thi Chi Mai Tran, Xuan Huy Nguyen, Diem Ngoc Ngo
AB145. Comparative metabolomic analyses in term and preterm Malaysian infants
Renuga Devi Muthukanoo, Mun-Fai Loke, Yao-Mun Choo, Azanna Ahmad Kamar, Mohd Taufik Ishak, Jamuna Vadivelu, Meow-Keong Thong
AB146. CD38 gene expression and social phenotypes: blood genomics as a proxy for CNS function
Richard P. Ebstein, Mikhail Monakhov, Soo Hong Chew, Poh San Lai
AB147. Treatment-focused genetic testing (TFGT)—is it too soon for Malaysia?
Rifhan Azwani Mazlan, Kristine Barlow-Stewart, Margaret Gleeson, Teo Soo Hwang, Yoon Sook Yee, Tan Gie Hooi, Thong Meow Keong, Nur Aishah Binti Mohd Taib
AB148. The introduction of a contingent model of first trimester screening using non-invasive prenatal testing
Zara Richmond, Ron Fleischer, Maya Chopra, Jason Pinner, Mario D’Souza, Yelena Fridgant, Jon Hyett
AB149. Long-range PCR sequencing as a novel approach in genetic—analysis of MYH3: a preliminary result
Sathiya Maran, Robson Ee, Siti Aisyah Faten, Wan Rohani Wan Taib, Wan Pauzi Wan Ibrahim, Abdul Rahim Wong, Ravindran Ankathil, Mohd Rizal Mohd Zain, Kok Gan Chan, Huay Lin Tan
AB150. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
Shu-Chen Hsieh, Yung-Hsiu Lu, Ya-Chi Chen, Ju-Shan Pai, Yu-Ping Hsieh, Dau-Ming Niu
AB151. CHD7 variants identified by next-generation sequencing
Siew Peng Lee, Maggie Brett, Eileen Lim, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Breana Cham, Ene Choo Tan
AB152. Inborn errors of metabolism spectrum in symptomatic children of north India: 5-year prospective data from tertiary care centre
Somesh Kumar, Avinash Lomash, Bijo Varughese, Sourabh Bidhan, Sumaira Khalil, Sunil K. Polipalli, Seema Kapoor
AB153. Incidence of IEM from perspective of new born screening at a tertiary health care center in India
Sourabh Bidhan, Somesh Kumar, Avinash Lomash, Bijo Varughese, B. K. Thelma, Seema Kapoor
AB154. Molecular characterization of Filipino patients with variant galactosemia
Sylvia Estrada, Catherine Lynn Silao, Daffodil Canson
AB155. Clinical presentation and its relationship with chromosomal abnormalities in Turner syndrome
Bui Phuong Thao, Vu Chi Dung, Nguyen Ngoc Khanh, Can Thi Bich Ngoc, Nguyen Thi Hoan, Nguyen Thi Phuong
AB156. Clinical and laboratory characteristics of Prader-Willi syndrome
Bui Phuong Thao, Vu Chi Dung, Nguyen Ngoc Khanh, Can Thi Bich Ngoc, Ngo Diem Ngoc, Dinh Thi Hong Nhung, An Thuy Lan, Nguyen Thi Mai, Nguyen Phu Dat, Nguyen Thi Hoan
AB157. Evaluation of thalassemia screening program by using red blood count in pregnant women at Hung Vuong Hospital, Ho Chi Minh City, Vietnam
Thong Van Nguyen, Khanh Van Nguyen Le, Van Hung Pham, Truc Thanh Thi Nguyen, Linh Khanh Thi Le, Khoa Kieu Le, Truong Van Nguyen
AB158. Report of a Gardner’s syndrome case with an APC gene mutation
Phuoc Ngo, Suong Nguyen, Lam Bui, Tron Nguyen, Khai Huynh, Minh Bui, Thuy Do
AB159. Endocrine disrupting chemicals: toxicological risk assessment in vivo and in vitro models
Vo Thi Bich Thuy, Le Thi Nguyen Binh, Kim Thi Phuong Oanh, Nong Van Hai
AB160. Fuminal hepatic failure in Wilson disease
Trinh Thi Thuy, Nguyen Pham Anh Hoa, Hoang Thi Van Anh, Bui Huong Thuy, Do Van Do
AB161. High resolution melting analysis of buccal DNA revealed a significant association between UGT1A1 c.211G>A and neonatal hyperbilirubinemia development in Malay population
Tian Pei Cheung, Hans Van Rostenberghe, Rosliza Ismail, Noor Namirah Nawawi, Nurul Amierah Abdullah, Noraida Ramli, Nor Rosidah Ibrahim, Noorizan Hj Abd Majid, Narazah Mohd Yusoff, Hisahide Nishio, Surini Yusoff
AB162. Genes variation in three families of Vietnamese dioxin victim
Nguyen Dang Ton, Nguyen Hai Ha, Vu Phuong Nhung, Pham Nhat Khoi, Nguyen Thuy Duong, Huynh Thi Thu Hue, Le Thi Thu Hien, Nguyen Huy Hoang, Nong Van Hai
AB163. Microsatellite markers for preimplantation genetic diagnosis in Vietnamese DMD and hemophilia: a female carriers
Le Anh Tuan-Pham, Thinh Huy Tran, Dat Quoc Tran, Nguyen Thi Minh, Nguyen Lien Huong, Nguyen Viet Tien, Van Thanh Ta, The Hung Bui, Van Khanh Tran
AB164. Methylmalonic acidemia/propionic acidemia in Taiwan
Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chin-Su Liu, Chih-Jou Lai, Chuan-Chi Chiang, Chia-Feng Yang, Wuh-Liang Hwu, Shuan-Pei Lin, Dau-Ming Niu
AB165. Extended follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency
Tzu-Hung Chu, Chia-Feng Yang, Dau-Ming Niu
AB166. Replicative genetic association analysis reveals genetic markers of schizophrenia and Alzheimer’s disease in Russians and Kazakhs and demonstrates overlapping associations pattern between two diseases
Vadim Stepanov, Anna Bocharova, Andrey Marusin, Korlan Saduakasova, Gulnara Svyatova, Natalia Zhukova, Irina Zhukova, Valentina Aliferova
AB167. Congenital adrenal hyperplasia (CAH) caused by mutations in the CYP21A2 and CYP11B1 gene of Vietnamese children patients
Bac Viet Le, Thi Kim Lien Nguyen, Phuong Thao Tran, Thu Hien Nguyen, Huy Hoang Nguyen
AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome
Winnie Peitee Ong, Muzhirah Aisha Md Haniffa, Huey Yin Leong, Hui Bein Chew, Gaik Siew Ch’ng, Lock Hock Ngu, Nisha Patel, Mais Omar Hashem, Fowzan Sami Alkuraya, Wee Teik Keng
AB169. Engaging the genetic counsellor in the implementation of precision oncology in Singapore
Yasmin Bylstra, Patrick Tan
AB170. Loss of heterozygosity in child with multiple congenital anomaly
Yulia Ariani Aswin, Damayanti Rusli Sjarif
AB171. RNA alternative splicing modulator can effectively increase lymphoblast enzyme activity in patients with cardiac fabry disease caused by IVS4+919G >A mutation
Yung-Hsiu Lu, Cheng-Fang Li, Chun-Kai Huang, Yu-Ting Lin, Ting-Rong Hsu, Dau-Ming Niu
AB172. High-throughput and cost-effective newborn screening method for female with fabry disease by DNA mass spectrometry in Taiwan
Yu-Ping Hsieh, He-Jin Gao, Chun-Kai Huang, Hui-Chen Ho, Dau-Ming Niu
AB173. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in a folate deficiency area where has inordinately high homocystinuria prevalence
Yu-Ting Lin, Yung-Hsiu Lu, Ya-Chi Chen, Ju-Shan Pai, Ting-Rong Hsu, Dau-Ming Niu
AB174. Genetic counseling in the couple with compound heterozygous carrier based on the result of mutation effect analysis on cystic fibrosis transmembrane conductance regulator (CFTR) protein
Ariestya Indah Permata Sari, Raed Farhat, Véronique Ladeveze, Sultana M. H. Faradz, Alain Kitzis