Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27.
Opsismodysplasia is a rare, autosomal-recessive skeletal dysplasia characterized by short stature, characteristic facial features, and in some cases severe renal phosphate wasting. We used linkage analysis and whole-genome sequencing of a consanguineous trio to discover that mutations in inositol polyphosphate phosphatase-like 1 (INPPL1) cause opsismodysplasia with or without renal phosphate wasting. Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ~60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases.
Opsismodysplasia 是一种罕见的常染色体隐性骨骼发育不良,其特征为身材矮小、特征性面部特征,某些情况下还伴有严重的肾磷酸盐丢失。我们通过对一个近亲三代家族进行连锁分析和全基因组测序,发现肌醇多磷酸磷酸酶样 1(INPPL1)基因突变可导致伴有或不伴有肾磷酸盐丢失的 Opsismodysplasia。对 12 个 Opsismodysplasia 家系的评估表明,总体而言,INPPL1 突变解释了约 60%的病例,包括我们队列中两个有多个患病子女的家系和 50%的单纯病例。