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Article

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

Molecular vision - 1 Jan 2008

Sharma Shiwani, Burdon Kathryn P, Dave Alpana, Jamieson Robyn V, Yaron Yuval, Billson Frank, Van Maldergem Lionel, Lorenz Birgit, Gécz Jozef, Craig Jamie E

Abstract excerpt

PURPOSE: Nance-Horan syndrome is typically characterized by severe bilateral congenital cataracts and dental abnormalities. Truncating mutations in the Nance-Horan syndrome (NHS) gene cause this X-linked genetic disorder. NHS encodes two isoforms, NHS-A and NHS-1A. The ocular lens expresses NHS-A, the epithelial and neuronal cell specific isoform. The NHS-A protein localizes in the lens epithelium at the cellular...

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Identifiers

PMID: 18949062
PMCID: PMC2571945

Genes

NHS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.PMID 18949062Read ↗

Identification of the gene for Nance-Horan syndrome (NHS).Semantic proximity Read ↗

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.Semantic proximity Read ↗

Identification of three novel NHS mutations in families with Nance-Horan syndrome.Semantic proximity Read ↗

[Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations].Semantic proximity Read ↗

A Novel Frameshift Mutation in The NHS Gene Causes Nance-Horan Syndrome in a Chinese FamilySemantic proximity Read ↗

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.Semantic proximity Read ↗

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.Semantic proximity Read ↗

Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.Semantic proximity Read ↗

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.Semantic proximity Read ↗

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.Semantic proximity Read ↗

[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome].Semantic proximity Read ↗

Leveraging genetic testing for cataract diagnosis: novel NHS variant guides the diagnosis to Nance-Horan syndrome, a case study.Semantic proximity Read ↗

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