Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.

ABSTRACT:

Objective

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is caused by FOXP3 mutations. We aimed to determine the prevalence, genetics, and clinical phenotype of FOXP3 mutations in a large cohort with permanent neonatal diabetes (PNDM).

Research design and methods

The 11 coding exons and the polyadenylation region of FOXP3 were sequenced in 26 male subjects with diabetes diagnosed before 6 months of age in whom common genetic causes of PNDM had been excluded. Ten subjects had at least one additional immune-related disorder, and the remaining 16 had isolated diabetes.

Results

We identified four hemizygous FOXP3 mutations in 6 of 10 patients with associated immune-related disorders and in 0 of 16 patients with isolated diabetes (P = 0.002

SUBMITTER: Rubio-Cabezas O 

PROVIDER: S-EPMC2606841 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature