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VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 2002 May 01;11(9):1029-36

Date

04/30/2002

Pubmed ID

11978762

DOI

10.1093/hmg/11.9.1029

Scopus ID

2-s2.0-0036566556 (requires institutional sign-in at Scopus site)   252 Citations

Abstract

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 G160D substitution, and a fourth defect affecting the highly conserved CVC domain (P247R), occurred in a child with very severe PPD who required a corneal transplant at 3 months of age. In this family, relatives with the G160D change alone had mild to moderate PPD, while P247R alone caused no corneal abnormalities. However, with either the G160D or P247R mutation, electroretinography detected abnormal function of the inner retina, where VSX1 is expressed. These data define the molecular basis of two important corneal dystrophies and reveal the importance of the CVC domain in the human retina.

Author List

Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM

Author

Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adult
Aged
Aged, 80 and over
Amino Acid Sequence
Child
DNA Mutational Analysis
Electroretinography
Eye Proteins
Female
Fuchs' Endothelial Dystrophy
Homeodomain Proteins
Humans
Infant
Keratoconus
Male
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Single-Stranded Conformational
Retina
Reverse Transcriptase Polymerase Chain Reaction
Sequence Homology, Amino Acid