Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.

ABSTRACT:

Background

Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction has been reported in 60% of patients.

Aims

To describe a cohort of WRS patients and discuss the pattern and management of their liver disease.

Methods

Detailed phenotyping and direct sequencing of EIF2AK3 gene were conducted in all patients.

Results

Twenty-eight genetically confirmed patients (67% male; mean age 4.6 years) were identified. 17 different EIF2AK3 mutations were detected, of which 2 were novel. The p.S991N mutation was associated with prolonged survival and p.I650T with delayed onset. All patients presented before 25 months with diabetes with variation in the frequency and severity

SUBMITTER: Habeb AM 

PROVIDER: S-EPMC4464042 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature