Novel mutation in Wolcott–Rallison syndrome with variable expression in two Omani siblings

Siham Al-Sinani*, Saif Al-Yaarubi, S. W. Sharef, Fathyia Al-Murshedi, Watfa Al-Maamari

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء

7 اقتباسات (Scopus)

ملخص

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.

اللغة الأصليةEnglish
الصفحات (من إلى)138-141
عدد الصفحات4
دوريةOman Medical Journal
مستوى الصوت30
رقم الإصدار2
المعرِّفات الرقمية للأشياء
حالة النشرPublished - 2015

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