3' deletions cause aniridia by preventing PAX6 gene expression
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چکیده
منابع مشابه
3' 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 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 کاملMissense 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 کاملA deletion 3' to the PAX6 gene in familial aniridia cases.
PURPOSE PAX6 mutations cause aniridia as well as other various congenital eye abnormalities. Aniridia can be due to both point mutations and chromosomal deletions/rearrangements. Therefore, a complete search for PAX6 gene alterations in aniridia subjects requires a technically complex approach involving the comprehension of fluorescence in situ hybridization (FISH) analysis. In the present stud...
متن کاملPAX6 aniridia and interhemispheric brain anomalies
PURPOSE To report the clinical and genetic study of patients with autosomal dominant aniridia. METHODS We studied ten patients with aniridia from three families of Egyptian origin. All patients underwent full ophthalmologic, general and neurological examination, and blood drawing. Cerebral magnetic resonance imaging was performed in the index case of each family. Genomic DNA was prepared from...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2000
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.240398797