Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China.
School of Life Sciences, Central South University, Changsha, China.
Biomed Res Int. 2021 Mar 8;2021:6678531. doi: 10.1155/2021/6678531. eCollection 2021.
Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early-onset osteoarthritis. encodes the cartilage oligomeric matrix protein, which is expressed predominantly in the extracellular matrix (ECM) surrounding the cells that make up cartilage, ligaments, and tendons. Mutations in are known to give rise to PSACH. In this study, we identified a novel nucleotide mutation (NM_000095.2: c.1317C>G, p.D439E) in responsible for PSACH in a Chinese family by employing whole-exome sequencing (WES) and built the structure model of the mutant protein to clarify its pathogenicity. The novel mutation cosegregated with the affected individuals. Our study expands the spectrum of mutations and further provides additional genetic testing information for other PSACH patients.
假性软骨发育不全症（PSACH）是一种常染色体显性骨骼发育不良病，估计发病率约为 1/60000，其特征为不成比例的身材矮小、短指（趾）畸形、关节松弛和早发性骨关节炎。 基因编码软骨寡聚基质蛋白，主要表达在构成软骨、韧带和肌腱的细胞周围的细胞外基质（ECM）中。已知 基因的突变会导致 PSACH。在这项研究中，我们通过全外显子组测序（WES）发现了一个中国家庭中导致 PSACH 的新型核苷酸突变（NM_000095.2：c.1317C>G，p.D439E），并构建了突变蛋白的结构模型，以阐明其致病性。新型突变与受影响的个体共分离。我们的研究扩展了 基因突变谱，并为其他 PSACH 患者提供了额外的遗传检测信息。
