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Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
- Source :
- ResearcherID
- Publication Year :
- 2009
- Publisher :
- eScholarship, University of California, 2009.
-
Abstract
- PurposeTo identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children.MethodsAn 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.ResultsThe 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).ConclusionsTo 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.
- Subjects :
- Pediatric
DNA Mutational Analysis
Initiator
Single Nucleotide
Ophthalmology & Optometry
eye diseases
Cataract
Genes
Clinical Research
Opthalmology and Optometry
beta-Crystallin B Chain
Genetics
Humans
Recessive
2.1 Biological and endogenous factors
Family
sense organs
Polymorphism
Codon
Eye Disease and Disorders of Vision
Oligonucleotide Array Sequence Analysis
Microsatellite Repeats
Biotechnology
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- ResearcherID
- Accession number :
- edsair.dedup.wf.001..fa8fa6238c028574f1b447f2a143f314