Congenital muscular alpha-dystroglycanopaties (MDDGAs) are rare congenital muscular dystrophies that are accompanied by a variety of brain and eye malformations. More than 19 gene mutations have been identified in MDDGA, and 11 mutations have been identified in the Walker–Warburg syndrome, but these changes could only be confirmed in about 60–70% of the clinically diagnosed individuals. In recent studies, a novel recessive mutation has been described in the ISPD gene. This mutation abolishes the initial step in laminin-binding glycan synthesis by disrupting dystroglycan O-mannosylation. We present clinical and molecular data of a male newborn having severe hydrocephaly, hypotonia, microphthalmia, microcornea, bilateral cataract, and a high creatine kinase level; this case had a homozygous mutation in the ISPD gene in exon-3. We also provide a literature review with respect to patients with ISPD mutations and involvement of the CNS.

中文翻译：

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由 ISPD 基因突变引起的先天性肌性α-肌营养不良症的临床和分子表现

先天性肌肉α-dystroglycanopaties (MDDGAs)是罕见的先天性肌营养不良症，伴有多种脑部和眼部畸形。在 MDDGA 中已经确定了超过 19 个基因突变，在 Walker-Warburg 综合征中已经确定了 11 个突变，但这些变化只能在大约 60-70% 的临床诊断个体中得到证实。在最近的研究中，在 ISPD 基因中描述了一种新的隐性突变。该突变通过破坏dystroglycan O-甘露糖基化取消了层粘连蛋白结合聚糖合成的初始步骤。我们提供了一名患有严重脑积水、肌张力减退、小眼症、小角膜、双侧白内障和肌酸激酶水平高的男性新生儿的临床和分子数据；该病例的外显子 3 中的 ISPD 基因发生纯合突变。