Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

Wallace L M Alward; Elena V Semina; Jeffrey W Kalenak; Elise Héon; Bhavna P Sheth; Edwin M Stone; Jeffrey C Murray

doi:10.1016/S0002-9394(99)80242-6

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Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

Journal article

Peer reviewed

Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

Wallace L M Alward, Elena V Semina, Jeffrey W Kalenak, Elise Héon, Bhavna P Sheth, Edwin M Stone and Jeffrey C Murray

American journal of ophthalmology, Vol.125(1), pp.98-100

01/1998

DOI: 10.1016/S0002-9394(99)80242-6

PMID: 9437321

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Abstract

To determine whether autosomal dominant iris hypoplasia is caused by mutations in the newly described gene for Rieger syndrome (RIEG/PITX2). Mutation screening and sequence analysis was performed in a single family. 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. Autosomal dominant iris hypoplasia is caused by a defect in the same gene that is defective in many cases of Rieger syndrome.

Paired Box Transcription Factors

Humans

Anterior Chamber - abnormalities

Male

Transcription Factors - genetics

Sequence Analysis, DNA

Homeodomain Proteins - genetics

Syndrome

Nuclear Proteins

Point Mutation

Pedigree

Iris Diseases - genetics

Iris - abnormalities

Female

Cornea - abnormalities

Details

Title: Subtitle: Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene
Creators: Wallace L M Alward - Department of Ophthalmology, University of Iowa College of Medicine, Iowa City 52242, USA. wallace-alward@uiowa.edu
Elena V Semina
Jeffrey W Kalenak
Elise Héon
Bhavna P Sheth
Edwin M Stone
Jeffrey C Murray
Resource Type: Journal article
Publication Details: American journal of ophthalmology, Vol.125(1), pp.98-100
DOI: 10.1016/S0002-9394(99)80242-6
PMID: 9437321
NLM abbreviation: Am J Ophthalmol
ISSN: 0002-9394
eISSN: 1879-1891
Publisher: United States
Grant note: DE09170 / NIDCR NIH HHS DE08559 / NIDCR NIH HHS DK25295 / NIDDK NIH HHS
Language: English
Date published: 01/1998
Academic Unit: Anatomy and Cell Biology; International Programs; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Pediatric Dentistry; Craniofacial Anomalies Research Center; Nursing; Public Policy Center (Archive); Dental Research; Ophthalmology and Visual Sciences
Record Identifier: 9983980029702771

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