Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

Elena V SEMINA; Isaac BROWNELL; Helen A MINTZ-HITTNER; Jeffrey C MURRAY; Milan JAMRICH

doi:10.1093/hmg/10.3.231

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Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

Journal article

Open access

Peer reviewed

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

Elena V SEMINA, Isaac BROWNELL, Helen A MINTZ-HITTNER, Jeffrey C MURRAY and Milan JAMRICH

Human molecular genetics, Vol.10(3), pp.231-236

2001

DOI: 10.1093/hmg/10.3.231

PMID: 11159941

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Abstract

Dysgenesis of the anterior segment of the eye delineates a spectrum of human developmental disorders that show wide phenotypic and genetic heterogeneity. It is also frequently associated with cataracts and glaucoma resulting in visual disability in childhood. The recently described forkhead transcription factor gene Foxe3 was shown to be involved in the dysgenetic lens phenotype in mice, which is characterized by small cataractic lens and anterior segment anomalies. Here we report an identification and characterization of the human ortholog of this gene, FOXE3. The gene was found to be expressed in the anterior lens epithelium and to be mutated in patients with ocular disorders. An insertion of G in the coding region of the FOXE3 gene that occurred 15 nucleotides upstream of the stop codon was identified in a family with anterior segment ocular dysgenesis and cataracts. The mutation causes a frameshift that results in an abnormal sequence of five terminal amino acids and an addition of 111 amino acids to the predicted protein. The mutation was present in two affected individuals from this family and was not identified in 180 normal control chromosomes.

Ophthalmology

Biological and medical sciences

Lens diseases

Medical sciences

Details

Title: Subtitle: Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
Creators: Elena V SEMINA - Department of Pediatrics y, The University of Iowa, Iowa City, IA 52242, United States
Isaac BROWNELL - Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, United States
Helen A MINTZ-HITTNER - Department of Ophthalmology and Visual Science, University of Texas-Houston Medical School, Houston, TX 77030, United States
Jeffrey C MURRAY - Department of Pediatrics y, The University of Iowa, Iowa City, IA 52242, United States
Milan JAMRICH - Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, United States
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.10(3), pp.231-236
DOI: 10.1093/hmg/10.3.231
PMID: 11159941
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: Oxford University Press; Oxford
Language: English
Date published: 2001
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025586302771

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