The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Darryl Y Nishimura; Ruth E Swiderski; Wallace L M Alward; Charles C Searby; Shivanand R Patil; Steven R Bennet; Adam B Kanis; Julie M Gastier; Edwin M Stone; Val C Sheffield

doi:10.1038/493

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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Journal article

Peer reviewed

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Darryl Y Nishimura, Ruth E Swiderski, Wallace L M Alward, Charles C Searby, Shivanand R Patil, Steven R Bennet, Adam B Kanis, Julie M Gastier, Edwin M Stone and Val C Sheffield

Nature genetics, Vol.19(2), pp.140-147

06/1998

DOI: 10.1038/493

PMID: 9620769

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Abstract

A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to human chromosome 6p25. These disorders have been postulated to be either allelic to each other or associated with a cluster of tightly linked genes. We have identified two primary congenital glaucoma (PCG) patients with chromosomal anomalies involving 6p25. In order to identify a gene involved in PCG, the chromosomal breakpoints in a patient with a balanced translocation between 6p25 and 13q22 were cloned. Cloning of the 6p25 breakpoint led to the identification of two candidate genes based on proximity to the breakpoint. One of these, FKHL7, encoding a forkhead transcription factor, is in close proximity to the breakpoint in the balanced translocation patient and is deleted in a second PCG patient with partial 6p monosomy. Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and iris hypoplasia (IH). This study demonstrates that mutations in FKHL7 cause a spectrum of glaucoma phenotypes.

Gene Expression

Phenotype

Translocation, Genetic

Humans

Molecular Sequence Data

Male

Chromosomes, Human, Pair 2

Polymorphism, Single-Stranded Conformational

Base Sequence

Female

Hydro-Lyases - genetics

Abnormalities, Multiple - genetics

Amino Acid Sequence

DNA-Binding Proteins - physiology

Transcription Factors - physiology

Chromosome Mapping

Transcription Factors - genetics

Chromosomes, Human, Pair 6

DNA-Binding Proteins - genetics

Sequence Alignment

Pedigree

Chromosomes, Human, Pair 13

Glaucoma - pathology

Glaucoma - genetics

Forkhead Transcription Factors

Details

Title: Subtitle: The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
Creators: Darryl Y Nishimura - Department of Pediatrics, University of Iowa, Iowa City 52242, USA
Ruth E Swiderski
Wallace L M Alward
Charles C Searby
Shivanand R Patil
Steven R Bennet
Adam B Kanis
Julie M Gastier
Edwin M Stone
Val C Sheffield
Resource Type: Journal article
Publication Details: Nature genetics, Vol.19(2), pp.140-147
DOI: 10.1038/493
PMID: 9620769
NLM abbreviation: Nat Genet
ISSN: 1061-4036
eISSN: 1546-1718
Publisher: United States
Grant note: R01-EY-10564 / NEI NIH HHS
Language: English
Date published: 06/1998
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979968702771

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