title: Novel mutation in wolcott-rallison syndrome with variable expression in two omani siblings.
abstract: 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.
authors.affiliation: Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Siham
authors.initials: S
authors.lastname: Al-Sinani
authors.affiliation: Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Saif
authors.initials: S
authors.lastname: Al-Yaarubi
authors.affiliation: Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Sharef Waadallah
authors.initials: SW
authors.lastname: Sharef
authors.affiliation: Department of Genetics, Sultan Qaboos University, Muscat, Oman.
authors.forename: Fathyia
authors.initials: F
authors.lastname: Al-Murshedi
authors.affiliation: Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Watfa
authors.initials: W
authors.lastname: Al-Maamari
keywords: Osteochondrodysplasia; Permanent Neonatal Diabetes Mellitus; Wolcott-Rallison syndrome