Hyland J, Ala-Kokko L, Royce P, Steinmann B, Kivirikko K I, Myllylä R
Collagen Research Unit, University of Oulu, Finland.
Nat Genet. 1992 Nov;2(3):228-31. doi: 10.1038/ng1192-228.
Ehlers-Danlos syndrome (EDS) is characterized by joint hypermobility, alterations in the skin and additional signs of connective tissue involvement. EDS type VI was the first connective tissue disorder for which a specific defect in collagen metabolism was identified, namely a deficiency of lysyl hydroxylase activity. We now report a homozygous single basepair substitution converting the CGA codon (Arg319) to a TGA termination codon in two siblings with EDS type VI. The healthy parents, who are first cousins, and two of the three healthy siblings of the patients are heterozygous. The mutation leads to an almost complete absence of lysyl hydroxylase activity in extracts derived from fibroblasts of the patients.
埃勒斯-当洛综合征（EDS）的特征为关节活动过度、皮肤改变以及结缔组织受累的其他体征。VI型EDS是首个被发现存在胶原代谢特定缺陷的结缔组织疾病，即赖氨酰羟化酶活性缺乏。我们现在报告在两名VI型EDS患者中发现一个纯合单碱基对替换，该替换将CGA密码子（Arg319）转换为TGA终止密码子。健康的父母是近亲，患者的三个健康兄弟姐妹中有两个是杂合子。该突变导致患者成纤维细胞提取物中几乎完全缺乏赖氨酰羟化酶活性。
