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

Michèle M. Sale; Jamie Craig; Jac Charlesworth; L Fitzgerald; I Hanson; J Dickinson; S Matthews; Veronica van Heyningen; J Fingert; David A. Mackey

doi:10.1002/humu.9066

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

Michèle M. Sale, Jamie Craig, Jac Charlesworth, L Fitzgerald, I Hanson, J Dickinson, S Matthews, Veronica van Heyningen, J Fingert, David A. Mackey

Research output: Contribution to journal › Article › peer-review

32 Citations (Scopus)

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.

Original language	English
Article number	537
Number of pages	6
Journal	Human Mutation
Volume	20
Issue number	4
DOIs	https://doi.org/10.1002/humu.9066
Publication status	Published - Oct 2002
Externally published	Yes

Keywords

development
ocular
gene expression
genetic diseases
iris
glaucoma
PAX6
aniridia

Access to Document

10.1002/humu.9066Licence: In Copyright

Cite this

@article{2201296ea69b4b4db4ffa6bc4a082c9e,

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

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. ",

keywords = "development, ocular, gene expression, genetic diseases, iris, glaucoma, PAX6, aniridia",

author = "Sale, {Mich{\`e}le M.} and Jamie Craig and Jac Charlesworth and L Fitzgerald and I Hanson and J Dickinson and S Matthews and {van Heyningen}, Veronica and J Fingert and Mackey, {David A.}",

year = "2002",

month = oct,

doi = "10.1002/humu.9066",

language = "English",

volume = "20",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "4",

}

TY - JOUR

T1 - Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

AU - Sale, Michèle M.

AU - Craig, Jamie

AU - Charlesworth, Jac

AU - Fitzgerald, L

AU - Hanson, I

AU - Dickinson, J

AU - Matthews, S

AU - van Heyningen, Veronica

AU - Fingert, J

AU - Mackey, David A.

PY - 2002/10

Y1 - 2002/10

N2 - 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.

AB - 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.

KW - development

KW - ocular

KW - gene expression

KW - genetic diseases

KW - iris

KW - glaucoma

KW - PAX6

KW - aniridia

U2 - 10.1002/humu.9066

DO - 10.1002/humu.9066

M3 - Article

SN - 1059-7794

VL - 20

JO - Human Mutation

JF - Human Mutation

IS - 4

M1 - 537

ER -

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

Abstract

Keywords

Access to Document

Fingerprint

Cite this