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Article

Homozygous<i>CRYBB1</i>Deletion Mutation Underlies Autosomal Recessive Congenital Cataract

25 Apr 2007

Abstract excerpt

PURPOSE: Some 30% of cases of congenital cataract are genetic in origin, usually transmitted as an autosomal dominant trait. The molecular defects underlying some of these autosomal dominant cases have been identified and were demonstrated to be mostly mutations in crystallin genes. The autosomal recessive form of the disease is less frequent. To date, only four genes and three loci have been associated with...

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PMID: 17460281
DOI: 10.1167/iovs.06-1019

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Related research

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Research trail→

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Homozygous<i>CRYBB1</i>Deletion Mutation Underlies Autosomal Recessive Congenital CataractPMID 17460281Read ↗

A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataractSemantic proximity Read ↗

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.Semantic proximity Read ↗

Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

Missense Mutations in CRYAB Are Liable for Recessive Congenital CataractsSemantic proximity Read ↗

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.Semantic proximity Read ↗

Autosomal dominant congenital nuclear cataracts caused by a CRYAA gene mutation.Semantic proximity Read ↗

Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.Semantic proximity Read ↗

A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.Semantic proximity Read ↗

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.Semantic proximity Read ↗

Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.Semantic proximity Read ↗

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Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.Semantic proximity Read ↗

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