The PITX3 gene in posterior polar congenital cataract inAustralia

[摘要] Purpose: Congenital cataract is a significant cause of blindnessworldwide. Many genes are known to cause the disorder. A largemultigenerational pedigree was investigated for the genetic cause of aposterior polar autosomal dominant congenital cataract.Methods: A genome wide scan was conducted in a largemultigenerational family with autosomal dominant cataract to identifythe linked region of the genome. The PITX3 gene was investigatedthrough direct sequencing and detection of fluorescently labeled PCRproducts.Results: Linkage was detected to a region of chromosome 10q23-26which contains the candidate gene PITX3. A segregating 17 bpinsertion mutation was identified. This mutation was not identified in100 additional unrelated sporadic and familial congenital cataractpatients. No mutations of the PITX3 gene were identified in 9families with posterior polar congenital cataract.Conclusions: The 657ins17bp duplication of the PITX3 gene is thecause of the cataract phenotype in the large pedigree, however, thisgene appears responsible for only a small proportion of congenitalcataract in Australia.

[学科分类] 生物化学/生物物理