Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings

• Main Authors: Siham Al-Sinani, Saif Al-Yaarubi, SW Sharef, Fathyia Al-Murshedi, Watfa Al-Maamari
• Format: Article
• Language: English
• Published: Oman Medical Specialty Board 2015-03-01
• Series: Oman Medical Journal
• Subjects: Wolcott-Rallison syndrome; Permanent Neonatal Diabetes Mellitus; Osteochondrodysplasia; Permanent Neonatal Diabetes Mellitus; Osteochondrodysplasia
• Online Access: http://www.omjournal.org/fultext_PDF.aspx?DetailsID=634&type=fultext

Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous families. Several mutations with variable expression of the syndrome are reported. Here we describe a six-year-old boy with WRS who was evaluated at Sultan Qaboos University Hospital and was found to have a novel homozygous nonsense mutation in the EIF2AK3 gene. His younger sister also had WRS but with milder expression. The mutation exhibited different clinical characteristics in the siblings proving that WRS patients phenotypic variability correlates poorly to genotype. This is the first case report of two Omani children with WRS and a report of a novel mutation.