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Lookup NU author(s): Ayad Shafiq
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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.
Author(s): Willoughby CE, Shafiq A, Ferrini W, Chan LLY, Billingsley G, Priston M, Mok C, Chandna A, Kaye S, Heon E
Publication type: Article
Publication status: Published
Journal: Molecular Vision
Year: 2005
Volume: 11
Issue: 69
Pages: 587-593
ISSN (print):
ISSN (electronic): 1090-0535
Publisher: Molecular Vision
