CHST14 缺陷导致 Ehlers-Danlos 综合征（肌张力障碍型）
中文名称
通路描述
碳水化合物硫酸转移酶 14（CHST14，也称为 D4ST-1）介导将硫酸转移到进一步 N-乙酰半乳糖胺（GalNAc）残基的第 4 位，形成硫酸软骨素（DS）。CHST14 缺陷导致 Ehlers-Danlos 综合征，肌张力障碍型（MIM:601776）。EDS 是一组结缔组织疾病，具有共同特征，如皮肤过度伸展、关节过动和组织脆弱（Beighton et al. 1998）。EDS 的肌张力障碍型（MIM:601776）具有独特特征，包括颅面畸形、手指和拇指先天性挛缩、足内翻、严重脊柱侧弯和肌肉低张力（Malfait et al. 2010）。
英文描述
Defective CHST14 causes EDS, musculocontractural type Carbohydrate sulfotransferase 14 (CHST14 also known as D4ST-1) mediates the transfer of sulfate to position 4 of further N-acetylgalactosamine (GalNAc) residues of dermatan sulfate (DS). Defects in CHST14 cause Ehlers-Danlos syndrome, musculocontractural type (MIM:601776). The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders that share common features such as skin hyperextensibility, articular hypermobility and tissue fragility (Beighton et al. 1998). The musculocontractural form of EDS (MIM:601776) include distinctive characteristics such as craniofacial dysmorphism, congenital contractures of fingers and thumbs, clubfeet, severe kyphoscoliosis and muscular hypotonia (Malfait et al. 2010).
所含基因
5 个基因