Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients

Chizuru Kawase; Kazuhide Kawase; Toru Taniguchi; Kazuhisa Sugiyama; Tetsuya Yamamoto; Yoshiaki Kitazawa; Wallace L M Alward; Edwin M Stone; Darryl Y Nishimura; Val C Sheffield

doi:10.1097/00061198-200112000-00007

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Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients

Journal article

Peer reviewed

Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients

Chizuru Kawase, Kazuhide Kawase, Toru Taniguchi, Kazuhisa Sugiyama, Tetsuya Yamamoto, Yoshiaki Kitazawa, Wallace L M Alward, Edwin M Stone, Darryl Y Nishimura and Val C Sheffield

Journal of glaucoma, Vol.10(6), pp.477-482

12/2001

DOI: 10.1097/00061198-200112000-00007

PMID: 11740218

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Abstract

Mutations in the forkhead transcription factor gene (FOXC1) have been recently shown to cause some cases of juvenile glaucoma associated with a variety of anterior-segment anomalies. The purpose of this study was to investigate the clinical features of Axenfeld-Rieger syndrome caused by FOXC1 mutations in Japanese patients. After informed consent was obtained, genomic DNA was isolated from peripheral blood. The DNA-sequence changes were analyzed using single-strand conformation polymorphism analysis and automated sequencing in six Japanese probands with Axenfeld-Rieger syndrome. The authors identified four mutations: pedigree 1 (26-47ins22), 2 (Ile91Ser), 3 (286ins1), and 4 (Arg127His). Two pedigrees showed new mutations in FOXC1. In pedigrees 1,2, and 4, younger generations had iris hypoplasia with severe early-onset glaucoma, whereas their parents had posterior embryotoxon without glaucoma. Pedigree 3 had a single affected person with iris hypoplasia and posterior embryotoxon with a mild increase of intraocular pressure. Four different FOXC1 mutations were found in four of six Japanese pedigrees with Axenfeld-Rieger syndrome. This was a new mutation in two pedigrees that was not found in earlier generations. This study confirms that mutations in this gene cause maldevelopment of the anterior segment of the eye.

Mutation

Japan - epidemiology

Glaucoma - ethnology

Humans

Molecular Sequence Data

Infant

Male

Anterior Eye Segment - abnormalities

Polymorphism, Single-Stranded Conformational

DNA Mutational Analysis

Base Sequence

Female

Eye Abnormalities - ethnology

Child

DNA-Binding Proteins

Amino Acid Sequence

Intraocular Pressure

Glaucoma - surgery

Transcription Factors - genetics

Eye Abnormalities - genetics

Syndrome

Eye Abnormalities - surgery

Pedigree

Adolescent

Iris - abnormalities

Glaucoma - genetics

Forkhead Transcription Factors

Details

Title: Subtitle: Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients
Creators: Chizuru Kawase - Department of Ophthalmology, Gifu University School of Medicine, Gifu, Japan
Kazuhide Kawase
Toru Taniguchi
Kazuhisa Sugiyama
Tetsuya Yamamoto
Yoshiaki Kitazawa
Wallace L M Alward
Edwin M Stone
Darryl Y Nishimura
Val C Sheffield
Resource Type: Journal article
Publication Details: Journal of glaucoma, Vol.10(6), pp.477-482
DOI: 10.1097/00061198-200112000-00007
PMID: 11740218
NLM abbreviation: J Glaucoma
ISSN: 1057-0829
eISSN: 1536-481X
Publisher: United States
Grant note: EY 10564 / NEI NIH HHS
Language: English
Date published: 12/2001
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979984802771

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