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Article

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

Ophthalmic genetics - 1 Jun 2004

Brooks Simon, Ebenezer Neil, Poopalasundaram Subathra, Maher Eamonn, Francis Peter, Moore Anthony, Hardcastle Alison

Abstract excerpt

The X-linked congenital cataract (CXN) locus has been mapped to a 3-cM (approximately 3.5 Mb) interval on chromosome Xp22.13, which is syntenic to the mouse cataract disease locus Xcat and encompasses the recently refined Nance-Horan syndrome (NHS) locus. A positional cloning strategy has been adopted to identify the causative gene. In an attempt to refine the CXN locus, seven microsatellites were analysed within...

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Source

Identifiers

PMID: 15370543
DOI: 10.1080/13816810490514360

Genes

NHS
PPEF1
RAI2
RBBP7

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).PMID 15370543Read ↗

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

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

Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.Semantic proximity Read ↗

Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1.Semantic proximity Read ↗

Fine localization of a new cataract locus, Kec, on mouse chromosome 14 and exclusion of candidate genes as the gene that causes cataract in the Kec mouse.Semantic proximity Read ↗

Exclusion of three candidate genes, Grpr, Cxn33, and Pdha1, for the X-linked cataract gene on the distal region of the mouse chromosome X.Semantic proximity Read ↗

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Fine localization of Nefl and Nef3 and its exclusion as candidate gene for lens rupture 2(lr2).Semantic proximity Read ↗

High-resolution comparative mapping of the proximal region of the mouse X chromosome.Semantic proximity Read ↗

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

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