دورية أكاديمية
أعرض في EDS

Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.

التفاصيل البيبلوغرافية
العنوان: Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.
المؤلفون: Ngoc CTB; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam.; Pediatric Department, Hanoi Medical University, Hanoi, Vietnam., Dung VC; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam., De Franco E; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Lan NN; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Thao BP; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam., Khanh NN; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam., Flanagan SE; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Craig ME; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead/Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia.; School of Clinical Medicine, University of New South Wales Medicine and Health, Discipline of Paediatrics and Child Health, Sydney, NSW, Australia., Hoang NH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam., Dien TM; The Center of Endocrinology, Metabolism, Genetics, and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam.
المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Apr 19; Vol. 13, pp. 866573. Date of Electronic Publication: 2022 Apr 19 (Print Publication: 2022).
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Lausanne : Frontiers Research Foundation]
مواضيع طبية MeSH: Diabetes Mellitus*/etiology , Diabetes Mellitus*/genetics , Diabetic Ketoacidosis* , Infant, Newborn, Diseases*/epidemiology , Infant, Newborn, Diseases*/genetics, Asian People ; Child ; Glycated Hemoglobin ; Humans ; Infant ; Infant, Newborn ; Insulin/genetics ; Mutation ; Vietnam/epidemiology
مستخلص: Background: Neonatal diabetes mellitus (NDM) is a rare (1:90,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Dominantly-acting insulin ( INS ) gene mutations cause permanent NDM through single amino acid changes in the protein sequence leading to protein misfolding, which is retained within the endoplasmic reticulum (ER), causing ER stress and β-cell apoptosis. Over 90 dominantly-acting INS gene mutations have been identified in individuals with permanent NDM.
Patients and Methods: The study included 70 infants diagnosed with NDM in the first year of life between May 2008 and May 2021 at the Vietnam National Children's Hospital. Sequencing analysis of all the genes known to cause NDM was performed at the Exeter Genomic Laboratory, UK. Clinical characteristics, molecular genetics, and annual data relating to glycemic control (HbA1c) and severe hypoglycemia of those with INS mutations were collected. The main outcomes of interest were HbA1c, daily insulin dose, growth, and cognitive/motor development.
Results: Fifty-five of 70 infants (78.5%) with NDM harbored a mutation in a known disease-causing gene and of these, 10 had six different de novo heterozygous INS mutations. Mean gestational age was 38.1 ± 2.5 weeks and mean birth weight was 2.8 ± 0.5 g. They presented with NDM at 20 ± 17 weeks of age; 6/10 had diabetic ketoacidosis with pH 7.13 ± 0.26; plasma glucose level 32.6 ± 14.3 mmol/l and HbA1C 81 ± 15% mmol/mol. After 5.5 ± 4.8 years of insulin treatment, 9/10 have normal development with a developmental quotient of 80-100% and HbA1C 64 ± 7.3 mmol/mol, 9/10 have normal height, weight, and BMI on follow-up.
Conclusions: We report a series of Vietnamese NDM cases with dominant INS mutations. INS mutations are the third commonest cause of permanent NDM. We recommend screening of the INS gene in all children diagnosed with diabetes in the first year of life.
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.​​​​​​​​​​​​​​​​​​​​ The reviewer NS declared a past co-authorship with one of the authors EF to the handling editor.
(Copyright © 2022 Ngoc, Dung, De Franco, Lan, Thao, Khanh, Flanagan, Craig, Hoang and Dien.)
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فهرسة مساهمة: Keywords: INS mutations; diabetes mellitus in infants; neonatal diabetes mellitus; neonatal diabetes mellitus in Vietnamese infants; outcomes in infants with INS gene mutations
المشرفين على المادة: 0 (Glycated Hemoglobin A)
0 (Insulin)
SCR Disease Name: Diabetes Mellitus, Permanent Neonatal
تواريخ الأحداث: Date Created: 20220506 Date Completed: 20220509 Latest Revision: 20221207
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC9063464
DOI: 10.3389/fendo.2022.866573
PMID: 35518939
قاعدة البيانات: MEDLINE
الوصف
تدمد:1664-2392
DOI:10.3389/fendo.2022.866573