Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.

Journal of Diabetes Investigation
Yu DingXiumin Wang

Abstract

To investigate the genetic etiology and evaluate the diagnostic application of next-generation sequencing for diabetes/persistent hyperglycemia in children and adolescents. Patients with diabetes/persistent hyperglycemia, presenting with at least one other clinical manifestation (other than diabetes) or with a family history of diabetes, were recruited. The clinical and laboratory characteristics of the patients were recorded. Next-generation sequencing was carried out, and candidate variants were verified by Sanger sequencing. Variant pathogenicity was further evaluated according to the American College of Medical Genetics and Genomics guidelines. This study included 101 potential probands, 36 of whom were identified as positive by genetic testing. A further 51.2 and 20.9% of variants were determined to be pathogenic or likely pathogenic, respectively. Variants associated with the disease were primarily identified in 21 genes and three regions of copy number variants. Among the 39 variants in 21 genes, 61.5% (24/39) were novel. The genetic diagnosis of 23 patients was confirmed based on genetic evidence and associated clinical manifestations. We reported GCK variants (21.7%, 5/23) as the most common etiology in our cohort. Dif...Continue Reading

References

Nov 25, 2005·Diabetes·Mikael KnipHans K Akerblom
Jul 21, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Antonie D KlineDavid Tuchman
May 12, 2009·Nature Genetics·Jeffrey C BarrettUNKNOWN Type 1 Diabetes Genetics Consortium
Jun 18, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hutton M KearneyUNKNOWN Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
Jul 15, 2011·Experimental Diabetes Research·Hirohito KudoYoshitomo Oka
Aug 2, 2013·Diabetes·Lori L BonnycastleMarkku Laakso
Sep 19, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Yuan XueMadhuri R Hegde
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Jun 11, 2015·Pediatric Diabetes·Christina ChambersAndrea K Steck
Dec 9, 2015·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Jian WangYiping Shen
Nov 1, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Zornitza StarkSusan M White
Apr 23, 2016·PLoS Computational Biology·Eric TalevichBoris C Bastian
Jul 28, 2017·Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association·Antonela BoljatTatijana Zemunik
Aug 16, 2017·European Journal of Medical Genetics·Valentine MarquetCatherine Yardin
Mar 16, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Leslie G BieseckerUNKNOWN ClinGen Sequence Variant Interpretation Working Group
Sep 8, 2018·Human Mutation·Ahmad N Abou TayounUNKNOWN ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)
Dec 20, 2018·Molecular Genetics & Genomic Medicine·Ruen YaoYiping Shen
Dec 29, 2018·Journal of Diabetes Investigation·Zhixin WangXinhua Xiao
Apr 10, 2019·Diabetes·Özkan AydemirUNKNOWN Better Diabetes Diagnosis (BDD) Study Group
Apr 13, 2019·The Journal of Clinical Endocrinology and Metabolism·Seung Shin ParkKyong Soo Park
May 8, 2019·Diabetes Research and Clinical Practice·May SanyouraRochelle N Naylor
Jun 20, 2019·Journal of Pediatric Endocrinology & Metabolism : JPEM·Zhu Ming-QiangDong Guan-Ping

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Methods Mentioned

BETA
gene panel

Software Mentioned

SIFT
MaxEntScan
ClinGen
PolyPhen
Ingenuity Variant Analysis
CNVkit
Stata

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