Clinical and molecular genetic analysis in three children with Wolfram Syndrome: a novel WFS1 mutation (c.2534T > A).

Clinical and molecular genetic analysis in three children with Wolfram Syndrome: a novel WFS1 mutation (c.2534T>A). J Clin Res Pediatr Endocrinol. 2016 Jul 27; Authors: Çelmeli G, Türkkahraman D, Çürek Y, Houghton J, Akçurin S, Bircan İ Abstract Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The main clinical features include diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA) and deafness (D) with other variable clinical manifestations. The aim of this paper is to present three cases of WS from three unrelated Turkish families with their clinical and genetic characteristics. The first two cases developed all symptoms of the disease in the first decade. Heterozygous father of the case two was symptomatic with bilateral deafness. Previously known homozygous mutations, c.460+1G>A in intron 4 and c.1885C>T in exon 8, were identified in these cases, respectively. The first ocular finding of case three was bilateral cataract which was accompanying DM as a first feature of syndrome. In the family of case three, there were two members with features suggestive of WS. A novel homozygous c.2534T>A mutation detected in the exon 8 of WFS1 gene. Clinical characteristics of the patients and the age of onset of symptoms were quite different in each pedigree. By reason of the rarity and heterogeneity of the disease clinical suspicion for WS should be established with speci...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research