%0 Letter
%T NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations.
%A Dietvorst S
%A Devriendt K
%A Lambert J
%A Boogaerts A
%A Van Den Bogaert K
%A Buyse G
%A Van Calenbergh F
%J Eur J Med Genet
%V 66
%N 4
%D Apr 2023
%M 36702440
%F 2.465
%R 10.1016/j.ejmg.2023.104713
%X 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.