A rare PAX6 mutation in a Chinese family with congenital aniridia
نویسندگان
چکیده
منابع مشابه
A rare PAX6 mutation in a Chinese family with congenital aniridia.
Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons of PAX6 from 12 family members were amplified by polymerase chain reaction, sequenced, and compared with referen...
متن کاملA nonsense PAX6 mutation in a family with congenital aniridia
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 cons...
متن کاملA novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract
PURPOSE To identify the disease-causing gene in a four-generation Chinese family affected with autosomal dominant aniridia and cataract. METHODS All patients underwent full ophthalmic examination. For mutation analysis, a partial coding region (exons 5-14) of paired box gene 6 (PAX6) was sequenced with DNA from the proband. Single-strand conformation polymorphism analysis for exon 5 of PAX6 w...
متن کاملA recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family
PURPOSE Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family. METHODS A detailed family history and clinical data from patients were collected by ophthalmologic examination, including visual acuity, slit-lamp examinatio...
متن کاملInvestigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia.
Mutations in the PAX6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population. Therefore, the objective of this study was to investigate the PAX6 mutation in a Malaysian family with congenital aniridia. In this study, a complete ophthalmic examination was performed on a Dusun ethnic family with aniridia. Genomic DNA was extracted from the periphe...
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ژورنال
عنوان ژورنال: Genetics and Molecular Research
سال: 2015
ISSN: 1676-5680
DOI: 10.4238/2015.october.26.29