缺陷的CHSY1导致TPBS
中文名称
通路描述
CHSY（硫酸软骨素合成酶）参与硫酸软骨素的合成，交替地在生长的软骨素聚合物上添加葡萄糖醛酸（GlcA）和N-乙酰半乳糖胺（GalNAc）。CHSY1的缺陷导致特纳前臂短指症（TPBS；MIM:605282），这是一种以先天性畸形、智力障碍、感音神经性耳聋、生长迟缓以及双侧对称性数字畸形（主要是前臂短指症和指骨多节性）为特征的综合征。
英文描述
Defective CHSY1 causes TPBS Chondroitin sulfate synthases (CHSY) are involved in the synthesis of chondroitin sulfate, adding alternatingly glucuronate (GlcA) and N-acetylgalactosamine (GalNAc) to the growing chondroitin polymer (Mizumoto et al. 2013). Defects in CHSY1 cause temtamy preaxial brachydactyly syndrome (TPBS; MIM:605282), a syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, growth retardation and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly (literally, shortness of fingers and toes) and hyperphalangism (Temtamy et al. 1998, Race et al. 2010, Tian et al. 2010).
所含基因
5 个基因