Genotype–phenotype correlation of PAX6 gene mutations in aniridia
نویسندگان
چکیده
منابع مشابه
Missense mutations in the PAX6 gene in aniridia.
PURPOSE Aniridia is caused by a mutation of the PAX6 gene. Haploinsufficiency of the gene product is thought to result in the aniridia phenotype, because most mutations thus far detected have been large deletions encompassing the entire gene and nonsense, frameshift, or splice errors that result in premature translational termination on one of the alleles. Only two missense mutations have been ...
متن کاملNovel mutations of the PAX6 gene identified in Chinese patients with aniridia.
PURPOSE Mutations in PAX6 are the major cause of aniridia. Only a few PAX6 mutations in Chinese have been reported. This study is to identify novel mutations in PAX6 of Chinese patients with aniridia. METHODS Aniridia patients were collected from 11 Chinese families, and genomic DNA was prepared from venous leukocytes. The coding regions of PAX6 were analyzed by direct sequencing of PCR produ...
متن کاملPAX6 gene intragenic deletions in Mexican patients with congenital aniridia.
PURPOSE To present the results of molecular analysis of the PAX6 gene in a group of patients with congenital aniridia from Mexican mestizo origin, a previously unstudied ethnic group. METHODS Five unrelated affected probands, four pertaining to familial cases and one sporadic, were studied at the Institute of Ophthalmology "Conde de Valenciana" in Mexico City. All patients underwent full opht...
متن کامل3' deletions cause aniridia by preventing PAX6 gene expression.
Aniridia is a panocular human eye malformation caused by heterozygous null mutations within PAX6, a paired-box transcription factor, or cytogenetic deletions of chromosome 11p13 that encompass PAX6. Chromosomal rearrangements also have been described that disrupt 11p13 but spare the PAX6 transcription unit in two families with aniridia. These presumably cause a loss of gene expression, by remov...
متن کاملMolecular analysis of the PAX6 gene for congenital aniridia in the Korean population: Identification of four novel mutations
PURPOSE To analyze the paired box gene 6 (PAX6) in Korean patients with congenital aniridia. METHODS Genomic DNA was isolated from peripheral blood leukocytes of 22 aniridia patients in 18 unrelated families. Polymerase chain reaction was performed for all 14 exons of PAX6 followed by bidirectional sequencing. RESULTS Fourteen different kinds of mutations were detected in 16 of 18 unrelated...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2016
ISSN: 2054-345X
DOI: 10.1038/hgv.2015.52