Gonzaga-Jauregui Claudia, Gamble Candace N, Yuan Bo, Penney Samantha, Jhangiani Shalini, Muzny Donna M, Gibbs Richard A, Lupski James R, Hecht Jacqueline T
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Department of Pediatrics, UT Health Medical School, Houston, TX, USA.
Eur J Hum Genet. 2015 Mar;23(3):342-6. doi: 10.1038/ejhg.2014.107. Epub 2014 Jul 2.
Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of genes responsible for chondrocyte development, differentiation, mineralization and early ossification. The application of whole-exome sequencing to disorders apparently segregating as Mendelian traits has proven to be an effective approach to disease gene identification for conditions with unknown molecular etiology. We identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. Interestingly, the identified variant seems to have arisen as a founder mutation in the Puerto Rican population.
骨软骨发育异常是一大类发育性结构障碍疾病，可由多种负责软骨细胞发育、分化、矿化和早期骨化的基因突变引起。将全外显子测序应用于明显呈孟德尔性状分离的疾病，已被证明是鉴定分子病因不明疾病的致病基因的有效方法。我们在一个无血缘关系的患有斯蒂尔综合征的家系中，鉴定出COL27A1基因中的一个纯合错义变异p.(Gly697Arg)。有趣的是，所鉴定的变异似乎是波多黎各人群中的一个始祖突变。
