Asl, S.N. and Vakili, R. and Vakili, S. and Soheilipour, F. and Hashemipour, M. and Ghahramani, S. and De Franco, E. and Yaghootkar, H. (2019) Wolcott-Rallison syndrome in Iran: A common cause of neonatal diabetes. Journal of Pediatric Endocrinology and Metabolism, 32 (6). pp. 607-613.
Full text not available from this repository.Abstract
Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal/early-onset non-autoimmune insulin-dependent diabetes, multiple epiphyseal dysphasia and growth retardation. It is caused by mutations in the gene encoding eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3). We aimed to study the clinical characteristics and frequency of the disease in the Iranian population. We recruited 42 patients who referred to the endocrine and metabolism clinic at Mashhad Imam Reza Hospital with neonatal diabetes. Molecular screening of KCNJ11, INS, ABCC8 and EIF2AK3 was performed at the Exeter Molecular Genetics Laboratory, UK. We calculated the frequency of the disease in 124 patients referred from Iran to the Exeter Molecular Genetics Laboratory for genetic screening and compared it to other countries worldwide. We identified seven patients as having Wolcott-Rallison syndrome. Genetic testing confirmed the clinical diagnosis and indicated five novel mutations. Only two patients developed clinical features of the syndrome by 6 months of age. Of all 124 cases of Iranian neonatal diabetes referred to the Exeter Molecular Genetics Laboratory for genetic screening, 28 patients (22.58) had a recessive mutation in EIF2AK3. The results of this study raises awareness of the condition and provides further accurate data on the genetic and clinical presentation of Wolcott-Rallison syndrome in the Iranian population. Our study highlights the importance of genetic testing in patients from consanguineous families with diabetes diagnosed within the first 6 months of life. © 2019 Walter de Gruyter GmbH, Berlin/Boston.
| Item Type: | Article |
|---|---|
| Additional Information: | cited By 0 |
| Subjects: | WK Endocrine System WS Pediatrics |
| Depositing User: | eprints admin |
| Date Deposited: | 06 Oct 2020 04:49 |
| Last Modified: | 06 Oct 2020 04:49 |
| URI: | http://eprints.iums.ac.ir/id/eprint/13459 |
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