Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

ABSTRACT:

Context and objective

Mutations in EIF2AK3 cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction. Although early diagnosis is important for clinical management, genetic testing is generally performed after the full clinical picture develops. We aimed to identify patients with WRS before any other abnormalities apart from diabetes are present and study the overall frequency of WRS among patients with permanent neonatal diabetes.

Research design and methods

The coding regions of EIF2AK3 were sequenced in 34 probands with infancy-onset diabetes with a clinical phenotype suggestive of WRS (n = 28) or homozygosity at the WRS locus (n = 6).

Results

Twenty-five probands (73.5%) we

SUBMITTER: Rubio-Cabezas O 

PROVIDER: S-EPMC2775655 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature