AB158. Report of a Gardner’s syndrome case with an APC gene mutation
Part 4: Oral/poster

AB158. Report of a Gardner’s syndrome case with an APC gene mutation

Phuoc Ngo1, Suong Nguyen2, Lam Bui3, Tron Nguyen3, Khai Huynh3, Minh Bui1, Thuy Do2

1Center for Molecular Biomedicine, 2Department of Biochemistry, University of Medicine and Pharmacy, HCMC, Vietnam; 3National Hospital of Odonto-Stomatology, HCMC, Vietnam

Background: Gardner’s syndrome is an autosomal dominant disorder with complete penetrance, caused by mutations in the adenomatous polyposis coli gene (APC gene). Gardner’s syndrome is characterized by intestinal polyposis, osteomas and dental abnormalities. APC mutations are mostly point mutations, causing a truncated and dysfunctional APC protein. Detection of mutations in APC gene from a patient with Gardner’s syndrome.

Methods: A 19-year-old female patient with typical symptoms of Gardner’s syndrome was sent from the Hospital of Odonto-Stomatology, Ho Chi Minh City for detection of APC gene mutations. We performed APC gene sequencing and used bioinformatics tools to detect APC gene mutations and predict the effects of mutations.

Results: We detected the p.Gln1517ArgfsX6 mutation in APC gene and analyzed the effects of this mutation on functions of the APC protein.

Conclusions: We reported a p.Gln1517ArgfsX6 mutation in APC gene from a patient with Gardner’s syndrome.

Keywords: Gardner’s syndrome; adenomatous polyposis coli gene (APC gene); sequencing; p.Gln1517ArgfsX6

Cite this abstract as: Ngo P, Nguyen S, Bui L, Nguyen T, Huynh K, Bui M, Do T. Report of a Gardner’s syndrome case with an APC gene mutation. Ann Transl Med 2015;3(S2):AB158. doi: 10.3978/j.issn.2305-5839.2015.AB158

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