PAX6 mutations: genotype-phenotype correlations.

ABSTRACT:

Background

The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye diseases. PAX6 mutations are archived in the Human PAX6 Allelic Variant Database, which currently contains 309 records, 286 of which are mutations in patients with eye malformations.

Results

We examined the records in the Human PAX6 Allelic Variant Database and documented the frequency of different mutation types, the phenotypes associated with different mutation types, the contribution of CpG transitions to the PAX6 mutation spectrum, and the distribution of chain-terminating mutations in the open reading frame. Mutations th

SUBMITTER: Tzoulaki I 

PROVIDER: S-EPMC1156885 | biostudies-literature | 2005 May

REPOSITORIES: biostudies-literature