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Article

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5.

American journal of medical genetics. Part A - 1 Nov 2025

Fisher Yael, Greenberg Orli, Shannon Patrick, Staines Andrea, McGivern Bobbi, Napier Melanie Patricia, Chitayat David

Abstract excerpt

Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus callosum, and autopsies done on both showed similar abnormalities,...

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Source

Identifiers

PMID: 40621786
DOI: 10.1002/ajmg.a.64164

Genes

BORCS5
SCYL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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