B3GAT3 缺陷导致 JDSSDHD
中文名称
通路描述
半乳糖基半乳糖基异乳糖基蛋白 3-β-葡糖基转移酶 1、2 和 3（B3GAT1-3）参与形成肝素硫酸盐和软骨硫酸盐中的连接四糖。B3GAT3 缺陷导致多关节脱位、身材矮小、颅面畸形和先天性心脏病（JDSSDHD; MIM:245600）。这是一种常染色体隐性疾病，特征为畸形面容、肘部、髋部和膝部脱位、足内翻、身材矮小和心血管缺陷（Steel & Kohl 1972, Bonaventure et al. 1992, Baasanjav et al. 2011）。JDSSDHD 与 Larsen 综合征（Larsen et al. 1950）具有表型相似性。
英文描述
Defective B3GAT3 causes JDSSDHD Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferases1, 2 and 3 (B3GAT1-3) are involved in forming the linker tetrasaccharide present in heparan sulfate and chondroitin sulfate. Defects in B3GAT3 cause multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD; MIM:245600). This is an autosomal recessive disease characterized by dysmorphic facies, elbow, hip and knee dislocations, clubfeet, short stature and cardiovascular defects (Steel & Kohl 1972, Bonaventure et al. 1992, Baasanjav et al. 2011). JDSSDHD has phenotypic similarities to Larsen syndrome (Larsen et al. 1950).
所含基因
6 个基因