B4GALT7 缺陷导致 Ehlers-Danlos 综合征（progeroid 型）
中文名称
通路描述
EDS 是一组遗传性结缔组织疾病，由 I 或 III 型胶原蛋白合成缺陷引起。异常胶原蛋白使结缔组织更具弹性。突变严重程度可从轻微到危及生命。目前无治愈方法，治疗为支持性，包括密切监测消化系统、排泄系统及心血管系统。B4GALT7 是一种参与糖胺聚糖合成的半乳糖基转移酶，其缺陷导致 EDS 的 progeroid 变体（MIM:130070）。特征包括苍老外观、发育迟缓、身材矮小、全身性骨量减少、伤口愈合缺陷、关节过动、低张力肌肉和松弛但弹性皮肤（Okajima et al. 1999）。
英文描述
Defective B4GALT7 causes EDS, progeroid type EhlersâDanlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen types I or III. Abnormal collagen renders connective tissues more elastic. The severity of the mutation can vary from mild to life-threatening. There is no cure and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Defective B4GALT7, a galactosyltransferase important in proteoglycan synthesis, causes the progeroid variant of EDS (MIM:130070). Features include an aged appearance, developmental delay, short stature, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al. 1999).
所含基因
9 个基因