Article
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
Investigative ophthalmology & visual science - 1 Aug 2004
Smaoui Nizar, Beltaief Omar, BenHamed Sonia, M'Rad Ridha, Maazoul Faouzi, Ouertani Amel, Chaabouni Habiba, Hejtmancik J Fielding
Abstract excerpt
PURPOSE: To map the locus and identify the gene causing autosomal recessive congenital cataracts in a large consanguineous Tunisian family. METHODS: DNA was extracted from blood samples from a large Tunisian family with an autosomal recessive, congenital, total white cataract. A genome-wide scan was performed with microsatellite markers. All exons and the splice sites of the HSF4 gene were sequenced in all...
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