NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations

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.