WISP3 mutation associated with pseudorheumatoid dysplasia.
WISP3 mutation associated with pseudorheumatoid dysplasia.
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DOI：
10.1101/mcs.a001990
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发表时间：
2018-03
影响因子：
1.8
通讯作者：
Snyder MP
中科院分区：
文献类型：
--
作者：
Sailani MR;Chappell J;Jingga I;Narasimha A;Zia A;Lynch JL;Mazrouei S;Bernstein JA;Aryani O;Snyder MP
Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an uncharacterized from of skeletal dysplasia. Whole-exome sequencing of four affected siblings and their parents identified a loss-of-function homozygous mutation in the WISP3 gene, leading to diagnosis of PPD in the affected individuals. The identified variant (Chr6: 112382301; WISP3:c.156C>A p.Cys52*) is rare and predicted to cause premature termination of the WISP3 protein.
