Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

Michèle M Sale; Jamie E Craig; Jacinta C Charlesworth; Liesel M FitzGerald; Isabel M Hanson; Joanne L Dickinson; Sarah J Matthews; Veronica van Heyningen; John H Fingert; David A Mackey

doi:10.1002/humu.9066

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Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

Journal article

Open access

Peer reviewed

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

Michèle M Sale, Jamie E Craig, Jacinta C Charlesworth, Liesel M FitzGerald, Isabel M Hanson, Joanne L Dickinson, Sarah J Matthews, Veronica van Heyningen, John H Fingert and David A Mackey

Human mutation, Vol.20(4), pp.322-322

10/2002

DOI: 10.1002/humu.9066

PMID: 12325030

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Abstract

The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from total aniridia to very mild anterior segment findings. Other findings included partial aniridia, iris stromal hypoplasia, keratitis, cataract, glaucoma, optic disc anomalies and foveal hypoplasia. It appears that independent modifying factors may underlie the variability of the different phenotypic features of the PAX6 mutation.

Phenotype

Paired Box Transcription Factors

Humans

Repressor Proteins - genetics

Male

PAX6 Transcription Factor

Transcription Factors - genetics

Mutation - genetics

Homeodomain Proteins - genetics

Aniridia - genetics

DNA Mutational Analysis

Pedigree

Female

Cytosine

Genetic Variation - genetics

Eye Proteins - genetics

Sequence Deletion - genetics

Details

Title: Subtitle: Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene
Creators: Michèle M Sale - Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, NC, USA. msale@wfubmc.edu
Jamie E Craig
Jacinta C Charlesworth
Liesel M FitzGerald
Isabel M Hanson
Joanne L Dickinson
Sarah J Matthews
Veronica van Heyningen
John H Fingert
David A Mackey
Resource Type: Journal article
Publication Details: Human mutation, Vol.20(4), pp.322-322
Publisher: United States
DOI: 10.1002/humu.9066
PMID: 12325030
ISSN: 1098-1004
eISSN: 1098-1004
Grant note: EY10564-02 / NEI NIH HHS MC_U127527199 / Medical Research Council
Language: English
Date published: 10/2002
Academic Unit: Ophthalmology and Visual Sciences
Record Identifier: 9983980007002771

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