TY - JOUR
T1 - Novel mutation in Wolcott–Rallison syndrome with variable expression in two Omani siblings
AU - Al-Sinani, Siham
AU - Al-Yaarubi, Saif
AU - Sharef, S. W.
AU - Al-Murshedi, Fathyia
AU - Al-Maamari, Watfa
N1 - Publisher Copyright:
© 2015, Oman Medical Specialty Board. All rights reserved.
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - Osteochondrodysplasia
KW - Permanent neonatal diabetes mellitus
KW - Wolcott-rallison syndrome
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U2 - 10.5001/omj.2015.29
DO - 10.5001/omj.2015.29
M3 - Article
C2 - 25960841
AN - SCOPUS:84926461924
SN - 1999-768X
VL - 30
SP - 138
EP - 141
JO - Oman Medical Journal
JF - Oman Medical Journal
IS - 2
ER -