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

Sofie Dietvorst; Koen Devriendt; Julie Lambert; Anneleen Boogaerts; Kris Van Den Bogaert; Gunnar Buyse; Frank Van Calenbergh

doi:10.1016/j.ejmg.2023.104713

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

Eur J Med Genet. 2023 Apr;66(4):104713. doi: 10.1016/j.ejmg.2023.104713. Epub 2023 Jan 24.

Authors

Sofie Dietvorst¹, Koen Devriendt², Julie Lambert³, Anneleen Boogaerts², Kris Van Den Bogaert², Gunnar Buyse⁴, Frank Van Calenbergh⁵

Affiliations

¹ Department of Neurosurgery, Belgium. Electronic address: sofie.dietvorst@uzleuven.be.
² Center for Human Genetics, Belgium.
³ Department of Radiology, Belgium.
⁴ Department of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium.
⁵ Department of Neurosurgery, Belgium.

PMID: 36702440
DOI: 10.1016/j.ejmg.2023.104713

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.

Keywords: ADDWOC; Cephalocele; Dandy-walker; NID1.

Publication types

Letter

MeSH terms

Dandy-Walker Syndrome* / genetics
Encephalocele* / genetics
Humans
Membrane Glycoproteins / genetics
Mutation

Substances

nidogen
Membrane Glycoproteins