TY - JOUR AU - Sun, Sheng-Wen AU - Zhou, Mei AU - Chen, Long AU - Wu, Jiang-Hua AU - Meng, Zhao-Ji AU - Miao, Shuai-Ying AU - Han, Hong-Li AU - Zhu, Chen-Chen AU - Xiong, Xian-Zhi PY - 2019 TI - Whole exome sequencing identifies a rare variant in DAAM2 as a potential candidate in idiopathic pulmonary ossification JF - Annals of Translational Medicine; Vol 7, No 14 (July 31, 2019): Annals of Translational Medicine Y2 - 2019 KW - N2 - Background: Diffuse pulmonary ossification (DPO) is a rare disease characterized by bone tissue formation in the lung. DPO can be classified into idiopathic pulmonary ossification (IPO) and secondary pulmonary ossification. Cases with no identified etiology are classified as IPO. Variants of dishevelled associated activator of morphogenesis 2 ( DAAM2 ) have been reported to be involved in the bone-resorption of osteoclasts. Methods: Whole exome sequencing (WES) was used on samples from a patient with IPO and his healthy parents. The effects of all variants were determined using functional predictors (PolyPhen-2, SIFT, FATHMM and MutationTaster); variants existing only in the patient were further screened compared with his healthy parents. Results: Forty deleterious variants, including 25 single nucleotide variants (SNVs) and 15 insertions and deletions (indels), were identified by WES. Finally, DAAM2 (c.G2960T:p.R987L) was screened by pathway analysis. Conclusions: We identified a novel variant of DAAM2 (c.G2960T:p.R987L) that might participate in the disease process of IPO. UR - https://atm.amegroups.org/article/view/26415