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Article

NDST1 missense mutations in autosomal recessive intellectual disability.

American journal of medical genetics. Part A - 1 Nov 2014

Reuter Miriam S, Musante Luciana, Hu Hao, Diederich Stefan, Sticht Heinrich, Ekici Arif B, Uebe Steffen, Wienker Thomas F, Bartsch Oliver, Zechner Ulrich, Oppitz Cornelia, Keleman Krystyna, Jamra Rami Abou, Najmabadi Hossein, Schweiger Susann, Reis André, Kahrizi Kimia

Abstract excerpt

NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous...

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Identifiers

PMID: 25125150
DOI: 10.1002/ajmg.a.36723

Genes

NDST1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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