A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

@article{Smaoui2004AHS,
  title={A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.},
  author={Nizar Smaoui and Omar Beltaief and Sonia Benhamed and Ridha M'rad and Faouzi M{\^a}azoul and Amel Meddeb Ouertani and Habiba B Bouhamed Chaabouni and J Fielding Hejtmancik},
  journal={Investigative ophthalmology & visual science},
  year={2004},
  volume={45 8},
  pages={2716-21}
}
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 members of the Tunisian family and in control individuals. RT-PCR was used to detect… CONTINUE READING

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