Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature*


Ozbek M. N. , Senee V., Aydemir S., Kotan L. D. , Mungan N. O. , Yuksel B., ...More

PEDIATRIC DIABETES, vol.11, no.4, pp.279-285, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 4
  • Publication Date: 2010
  • Doi Number: 10.1111/j.1399-5448.2009.00591.x
  • Title of Journal : PEDIATRIC DIABETES
  • Page Numbers: pp.279-285

Abstract

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by an early-infancy-onset diabetes mellitus associated with a variety of multisystemic clinical manifestations. Here, we present six patients with WRS, carrying the same homozygous mutation (EIF2AK3-W522X), from two unrelated Turkish families. This is the largest series of patients with the same mutation for this rare syndrome. In this communication we compare clinical features of these six patients with the other 34 patients who have been reported to date, and review the clinical features of WRS.