Abstract：
The combination of Dandy-Walker malformation and occipital cephalocele is a rare autosomal dominant condition, known as ADDWOC, and caused by mutations in NID1 or LAMC1. We present a three-generation family with variable manifestations of Dandy-Walker malformation and occipital cephalocele. They all have normal psychomotor development and lack neurological manifestations. Mutation analysis revealed a likely pathogenic missense variant in NID1 (c.3336T > G, p.Asn1112Lys), affecting an amino acid residue crucial in the nidogen/laminin interaction.
摘要：
Dandy-Walker畸形和枕骨头膨出的组合是一种罕见的常染色体显性疾病，被称为ADDWOC，由NID1或LAMC1突变引起。我们介绍了一个三代家族，其表现为Dandy-Walker畸形和枕骨头膨出。他们都有正常的精神运动发育，缺乏神经系统表现。突变分析显示NID1中可能存在致病性错义变异（c.3336T>G，p.Asn1112Lys)，影响在nidogen/层粘连蛋白相互作用中至关重要的氨基酸残基。
