Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.

ABSTRACT:

Purpose

Aniridia (AN) is a rare congenital panocular disorder caused by the mutations of the paired box homeotic gene 6(PAX6) gene. The PAX6gene is also involved in other anterior segment malformations including Peters anomaly. We studied the PAX6gene mutations in a cohort of affected individuals with different clinical phenotype including AN, coloboma of iris and choroid, or anterior segment malformations.

Patients and methods

Six unrelated families and 10 sporadic patients were examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Mutation screening of all exons of the PAX6gene was performed by direct sequencing of PCR-amplified DNA fragments. Multiplex ligation-dependent probe amplification (MLPA) wa

SUBMITTER: Zhang X 

PROVIDER: S-EPMC3234463 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature