Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Center for Medical Genetics, Antwerp University Hospital, 2650 Edegem, Belgium.
Genes (Basel). 2022 Apr 14;13(4):694. doi: 10.3390/genes13040694.
Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle-eye-brain disease, Walker-Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical heterogeneity, CMDs are characterized by genetic heterogeneity. To date, 18 genes have been associated with CMDs. One of them is , which encodes the β-1,3-N-acetylgalactosaminyltransferase 2 that glycosylates α-dystroglycan. In this study, using exome sequencing, we identify a homozygous frameshift variant in due to a mixed uniparental disomy of chromosome 1 in a 7-year-old girl with global developmental delay, severely delayed active language development, and autism spectrum disorder but without any symptoms of muscular dystrophy. In addition to this case, we also provide an overview of all previously reported cases, further expanding the phenotypic spectrum.
肌营养不良症是一组先天性肌肉疾病（CMD），包括从迟发性肢带型肌肉营养不良到严重的肌肉-眼-脑疾病、沃克-沃伯格综合征和福山型先天性肌肉营养不良等广泛的表型谱。除了临床异质性外，CMD 还具有遗传异质性。迄今为止，已有 18 个基因与 CMD 相关。其中之一是 ，它编码β-1,3-N-乙酰半乳糖胺基转移酶 2，该酶使α- dystroglycan 糖基化。在这项研究中，我们通过外显子组测序，在一名 7 岁女孩中发现了由于 1 号染色体混合单亲二体性导致的纯合移码变异，该女孩有全面发育迟缓、严重延迟的主动语言发育和自闭症谱系障碍，但没有任何肌肉营养不良的症状。除了这个病例，我们还提供了所有以前报告病例的概述，进一步扩大了表型谱。
