دورية أكاديمية
Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.
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.) |
References: | Front Pediatr. 2020 Sep 30;8:540718. (PMID: 33102403) Stem Cell Res. 2020 Jul 25;47:101929. (PMID: 32739878) Rev Endocr Metab Disord. 2010 Sep;11(3):205-15. (PMID: 20938745) Am J Physiol Renal Physiol. 2010 Mar;298(3):F788-95. (PMID: 20042456) Diabetes. 2010 Mar;59(3):653-61. (PMID: 20007936) Mol Genet Metab. 2014 Dec;113(4):315-320. (PMID: 25306193) PLoS One. 2012;7(1):e29205. (PMID: 22235272) Genet Med. 2015 May;17(5):405-24. (PMID: 25741868) Pediatr Diabetes. 2018 Oct;19 Suppl 27:105-114. (PMID: 30058221) Ann Pediatr Endocrinol Metab. 2020 Mar;25(1):42-45. (PMID: 32252216) BMC Med Genet. 2010 Mar 12;11:42. (PMID: 20226046) Electrophoresis. 1997 Dec;18(15):2714-23. (PMID: 9504803) Front Endocrinol (Lausanne). 2021 Sep 09;12:727083. (PMID: 34566892) J Biol Chem. 2010 Mar 12;285(11):7847-51. (PMID: 20106974) Diabetes. 1981 Mar;30(3):267-70. (PMID: 7009275) Mol Metab. 2021 Oct;52:101280. (PMID: 34174481) Horm Res Paediatr. 2013;80(3):137-46. (PMID: 24051999) Am J Physiol Endocrinol Metab. 2010 Mar;298(3):E403-10. (PMID: 19952343) J Clin Invest. 2002 Feb;109(4):525-32. (PMID: 11854325) Pediatr Diabetes. 2018 Oct;19 Suppl 27:47-63. (PMID: 30225972) J Diabetes Investig. 2019 Jul;10(4):947-950. (PMID: 30414308) Nature. 1980 Mar 6;284(5751):26-32. (PMID: 6243748) Eur J Med Genet. 2015 Apr;58(4):230-4. (PMID: 25721872) Diabetes. 1997 May;46(5):887-94. (PMID: 9133560) Lancet. 2015 Sep 5;386(9997):957-63. (PMID: 26231457) Diabetes Care. 2021 Jan;44(1):35-42. (PMID: 33184150) Diabetes. 2008 Apr;57(4):1034-42. (PMID: 18162506) J Clin Endocrinol Metab. 2016 Aug;101(8):3018-26. (PMID: 27167055) Biochem Biophys Res Commun. 2010 Jan 15;391(3):1449-54. (PMID: 20034470) Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. (PMID: 17855560) Eur J Med Genet. 2016 Nov;59(11):590-595. (PMID: 27659712) J Diabetes Investig. 2020 May;11(3):578-584. (PMID: 31605659) J Clin Invest. 1999 Jan;103(1):27-37. (PMID: 9884331) Trends Endocrinol Metab. 2010 Nov;21(11):652-9. (PMID: 20724178) J Biol Chem. 1991 Jun 25;266(18):11502-9. (PMID: 2050662) J Clin Endocrinol Metab. 2007 Apr;92(4):1276-82. (PMID: 17213273) Diabetes. 2007 May;56(5):1268-76. (PMID: 17303807) Am J Physiol Heart Circ Physiol. 2009 Dec;297(6):H2096-108. (PMID: 19801494) J Diabetes Res. 2016;2016:6314368. (PMID: 26839896) Diabetes. 2003 Feb;52(2):409-16. (PMID: 12540615) J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1279-86. (PMID: 26208381) Bioinformatics. 2019 Jun 1;35(11):1978-1980. (PMID: 30376034) Elife. 2018 Nov 09;7:. (PMID: 30412052) J Diabetes Investig. 2011 Apr 7;2(2):92-100. (PMID: 24843467) J Clin Invest. 2008 Jun;118(6):2148-56. (PMID: 18451997) J Diabetes Complications. 2021 Dec;35(12):108022. (PMID: 34593315) |
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 |
تدمد: | 1664-2392 |
---|---|
DOI: | 10.3389/fendo.2022.866573 |