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Mol Vis. 2005 Aug 8;11:587-93.

CRYBB1 mutation associated with congenital cataract and microcornea.

Author information

1
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada. c.willoughby@qub.ac.uk

Abstract

PURPOSE:

The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported.

METHODS:

Family history and clinical data were recorded. This phenotype was linked to a 7.6 cM region of chromosome 22q11.2-q12.2, spanning the beta-crystallin gene cluster (ZMax of 3.91 for marker D22S1114 at theta=0). Candidate genes were PCR amplified and screened for mutations on both strands using direct sequencing.

RESULTS:

Sequencing of the coding regions and flanking intronic sequences of CRYBB2 and CRYBB1 showed the presence of a novel, heterozygous X253R change in exon 6 of CRYBB1. SSCP analysis confirmed that this sequence change segregated with the disease phenotype in all available family members and was not found in 109 ethnically matched controls.

CONCLUSIONS:

X253R is predicted to elongate the COOH-terminal extension of the protein and would be expected to disrupt beta-crystallin interactions. This is the first documented involvement of CRYBB1 in ocular development beyond cataractogenesis.

PMID:
16110300
[Indexed for MEDLINE]
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