A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

ABSTRACT:

Purpose

To report a novel de novo PAX6 mutation in an Ashkenazi-Jewish family with autosomal dominant aniridia.

Methods

A mother and her daughter of Ashkenazi-Jewish origin were diagnosed with aniridia. Blood samples were drawn from family members and DNA was analyzed by direct sequencing and microsatellite marker analysis.

Results

The index patient and her daughter were affected with aniridia accompanied by congenital cataract, nystagmus, and glaucoma. A heterozygous PAX6 frameshift mutation in exon 6 (c.577_578insG, insG@Gly72) was identified in the affected individuals and not in any of the unaffected family members including the parents of the index patient. Microsatellite analysis revealed that the index patient inherited the disease haplotype from her unaffected

SUBMITTER: Bandah D 

PROVIDER: S-EPMC2255027 | biostudies-literature | 2008 Jan

REPOSITORIES: biostudies-literature