Sangsin A, Srichomthong C, Pongpanich M, Suphapeetiporn K, Shotelersuk V
Department of Orthopedics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Interdepartment Program of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok, Thailand.
Genet Mol Res. 2016 Mar 11;15(1):15017624. doi: 10.4238/gmr.15017624.
Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face, pectus carinatum, indirect inguinal hernia, platyspondyly, and generalized delayed endochondral ossification. Using whole-exome sequencing (WES), we successfully identified a de novo heterozygous mutation, c.2024G>A (p.G675D), in the COL2A1 gene, which, to our knowledge, has not been previously reported. These molecular findings helped provide a definite diagnosis of spondyloepiphyseal dysplasia congenita, aiding in proper management of the disease and improved genetic counseling. We demonstrated that WES is an efficient and cost-effective tool for molecular diagnosis for a type II collagenopathy.
骨骼发育异常是一组包含450多种病症的疾病，其中许多病症难以区分，尤其是在婴儿期，但可能导致不同的临床病程和预后。在本研究中，我们描述了一例泰国婴儿病例，该婴儿身材矮小、面部扁平、鸡胸、腹股沟斜疝、椎体扁平以及全身软骨内成骨普遍延迟。通过全外显子组测序（WES），我们成功鉴定出COL2A1基因中的一个新生杂合突变，即c.2024G>A（p.G675D），据我们所知，此前尚未有该突变的报道。这些分子学发现有助于明确诊断先天性脊椎骨骺发育不良，有助于对该疾病进行恰当管理并改善遗传咨询。我们证明了WES是用于II型胶原蛋白病分子诊断的一种高效且具成本效益 的工具。
