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Novel mutation in wolcott-rallison syndrome with variable expression in two Omani siblings
Joint Authors
al-Murshidi, Fathiyah
Sharif, Sharif Wad Allah
al-Yaarubi, Saif
al-Muammari, Watfah
al-Sinani, Siham
Source
Issue
Vol. 30, Issue 2 (30 Apr. 2015), pp.138-141, 4 p.
Publisher
Publication Date
2015-04-30
Country of Publication
Oman
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
al-Sinani, Siham& al-Yaarubi, Saif& Sharif, Sharif Wad Allah& al-Murshidi, Fathiyah& al-Muammari, Watfah. 2015. Novel mutation in wolcott-rallison syndrome with variable expression in two Omani siblings. Oman Medical Journal،Vol. 30, no. 2, pp.138-141.
https://search.emarefa.net/detail/BIM-798363
Modern Language Association (MLA)
al-Sinani, Siham…[et al.]. Novel mutation in wolcott-rallison syndrome with variable expression in two Omani siblings. Oman Medical Journal Vol. 30, no. 2 (2015), pp.138-141.
https://search.emarefa.net/detail/BIM-798363
American Medical Association (AMA)
al-Sinani, Siham& al-Yaarubi, Saif& Sharif, Sharif Wad Allah& al-Murshidi, Fathiyah& al-Muammari, Watfah. Novel mutation in wolcott-rallison syndrome with variable expression in two Omani siblings. Oman Medical Journal. 2015. Vol. 30, no. 2, pp.138-141.
https://search.emarefa.net/detail/BIM-798363
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 141
Record ID
BIM-798363