Department of Neurology, University Hospital and University of Zurich, Zürich, Switzerland.
Genetica, Human Genetics and Genetic Counselling Unit, Zurich, Switzerland.
J Clin Neuromuscul Dis. 2021 Mar 1;22(3):173-179. doi: 10.1097/CND.0000000000000320.
Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Kurdish family with 3 siblings affected by autosomal-recessive Bethlem myopathy caused by compound heterozygous mutations of COL6A3. We found the previously described missense mutation c.7447A > G/p.(Lys2483Glu) and a novel large deletion encompassing the exon 1-39 of the COL6A3 gene. Apart from the classical clinical symptoms, all patients had keratoconus, which expands the phenotype of the collagen VI-related myopathies.
胶原 VI 相关肌病由 COL6A1、COL6A2 和 COL6A3 的突变引起，表现出广泛的表型谱，从严重的 Ulrich 先天性肌营养不良到轻度的 Bethlem 肌病。在这里，我们报告了一个库尔德近亲家族，有 3 个兄弟姐妹受到 COL6A3 复合杂合突变引起的常染色体隐性 Bethlem 肌病的影响。我们发现了先前描述的错义突变 c.7447A > G/p.(Lys2483Glu)和一个新的包含 COL6A3 基因外显子 1-39 的大片段缺失。除了典型的临床症状外，所有患者都有圆锥角膜，这扩大了胶原 VI 相关肌病的表型。
