Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract

Esther Meyer; Fatimah Rahman; Jessica Owens; Shanaz Pasha; Neil V Morgan; Richard C Trembath; Edwin M Stone; Anthony T Moore; Eamonn R Maher

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract

Journal article

Peer reviewed

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract

Esther Meyer, Fatimah Rahman, Jessica Owens, Shanaz Pasha, Neil V Morgan, Richard C Trembath, Edwin M Stone, Anthony T Moore and Eamonn R Maher

Molecular vision, Vol.15, pp.1014-109

05/18/2009

PMCID: PMC2684559

PMID: 19461930

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Abstract

To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children. An autozygosity mapping strategy using high density SNP microarrays and microsatellite markers was employed to detect regions of homozygosity. Subsequently good candidate genes were screened for mutations by direct sequencing. The SNP microarray data demonstrated a 24.96 Mb region of homozygosity at 22q11.21-22q13.2 which was confirmed by microsatellite marker analysis. The candidate target region contained the beta-crystallin gene cluster and direct sequencing in affected family members revealed a novel mutation in CRYBB1 (c.2T>A; p.Met1Lys). To our knowledge this is the first case of an initiation codon mutation in a human crystallin gene, and only the second report of a CRYBB1 mutation associated with autosomal recessive congenital cataracts. In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract.

Codon, Initiator - genetics

Oligonucleotide Array Sequence Analysis

DNA Mutational Analysis

Humans

Cataract - genetics

Family

Polymorphism, Single Nucleotide

Genes, Recessive

beta-Crystallin B Chain - genetics

Microsatellite Repeats

Details

Title: Subtitle: Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
Creators: Esther Meyer - Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
Fatimah Rahman
Jessica Owens
Shanaz Pasha
Neil V Morgan
Richard C Trembath
Edwin M Stone
Anthony T Moore
Eamonn R Maher
Resource Type: Journal article
Publication Details: Molecular vision, Vol.15, pp.1014-109
PMID: 19461930
PMCID: PMC2684559
NLM abbreviation: Mol Vis
ISSN: 1090-0535
eISSN: 1090-0535
Publisher: United States
Grant note: Wellcome Trust
Language: English
Date published: 05/18/2009
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979923702771

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