دورية أكاديمية
Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes.
| العنوان: | Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes. |
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| المؤلفون: | Asl SN; Department of Pediatric Disease, Faulty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Vakili R; Department of Pediatric Disease, Faulty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Vakili S; Department of Pediatric Disease, Faulty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Soheilipour F; Minimally Invasive Surgery Research Center, Rasoul-e-Akram Hospital, Iran University of Medical Science, Tehran, Iran., Hashemipour M; Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Ghahramani S; Department of Pediatric Disease, Faulty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Yaghootkar H; Genetics of Complex Traits, University of Exeter Medical School, Medical Research - Level 3, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK. |
| المصدر: | Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2019 Jun 26; Vol. 32 (6), pp. 607-613. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Mar. 2011- : Berlin : Walter de Gruyter Original Publication: London : Freund Pub. House, [1995- |
| مواضيع طبية MeSH: | Biomarkers/*analysis , Diabetes Mellitus/*etiology , Diabetes Mellitus, Type 1/*complications , Epiphyses/*abnormalities , Infant, Newborn, Diseases/*etiology , Osteochondrodysplasias/*complications , eIF-2 Kinase/*genetics, Child ; Child, Preschool ; Consanguinity ; Diabetes Mellitus/diagnosis ; Diabetes Mellitus/epidemiology ; Female ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases/diagnosis ; Infant, Newborn, Diseases/epidemiology ; Iran/epidemiology ; Male ; Mutation ; Prognosis |
| مستخلص: | Background 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. Methods 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. Results 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. Conclusions 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. |
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| فهرسة مساهمة: | Keywords: EIF2AK3; Wolcott-Rallison syndrome; genetic screening; neonatal diabetes |
| المشرفين على المادة: | 0 (Biomarkers) EC 2.7.11.1 (EIF2AK3 protein, human) EC 2.7.11.1 (eIF-2 Kinase) |
| SCR Disease Name: | Diabetes Mellitus, Permanent Neonatal; Wolcott-Rallison syndrome |
| تواريخ الأحداث: | Date Created: 20190530 Date Completed: 20191206 Latest Revision: 20210213 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1515/jpem-2018-0434 |
| PMID: | 31141482 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 2191-0251 |
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| DOI: | 10.1515/jpem-2018-0434 |