Faculty Collaboration Database

Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol 1998 Jan;125(1):98-100

Date

01/23/1998

Pubmed ID

9437321

DOI

10.1016/s0002-9394(99)80242-6

Scopus ID

2-s2.0-0031984554 (requires institutional sign-in at Scopus site)   126 Citations

Abstract

PURPOSE: To determine whether autosomal dominant iris hypoplasia is caused by mutations in the newly described gene for Rieger syndrome (RIEG/PITX2).

METHOD: Mutation screening and sequence analysis was performed in a single family.

RESULTS: A novel mutation in the RIEG/PITX2 gene was found in all affected but no unaffected individuals. This mutation would be expected to result in an arginine to tryptophan amino acid change in the homeodomain of solurshin, the RIEG/ITX2 gene product.

CONCLUSION: Autosomal dominant iris hypoplasia is caused by a defect in the same gene that is defective in many cases of Rieger syndrome.

Author List

Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC

Authors

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

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

Anterior Chamber
Cornea
Female
Homeodomain Proteins
Humans
Iris
Iris Diseases
Male
Nuclear Proteins
Paired Box Transcription Factors
Pedigree
Point Mutation
Sequence Analysis, DNA
Syndrome
Transcription Factors