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Article

VSX1: a gene for posterior polymorphous dystrophy and keratoconus.

Human molecular genetics - 1 May 2002

Héon Elise, Greenberg Alex, Kopp Kelly K, Rootman David, Vincent Andrea L, Billingsley Gail, Priston Megan, Dorval Kimberley M, Chow Robert L, McInnes Roderick R, Heathcote Godfrey, Westall Carol, Sutphin John E, Semina Elena, Bremner Rod, Stone Edwin M

Abstract excerpt

We identified mutations in the VSX1 homeobox gene for two distinct inherited corneal dystrophies; posterior polymorphous dystrophy (PPD) and keratoconus. One of the mutation (R166W) responsible for keratoconus altered the homeodomain and impaired DNA binding. Two other sequence changes (L159M and G160D) were associated with keratoconus and PPD, respectively, and involved a region adjacent to the homeodomain. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 11978762
DOI: 10.1093/hmg/11.9.1029

Genes

VSX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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VSX1: a gene for posterior polymorphous dystrophy and keratoconus.PMID 11978762Read ↗

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