Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing

Abstract Whole‐exome sequencing is a new technology. We used it to explore the gene responsible for early‐onset diabetes as a result of impaired insulin secretion in a family. In the INS gene, we identified the heterozygous c.188‐31G>A mutation in the proband – a 43‐year‐old woman. The mutation w...

Full description

Bibliographic Details
Main Authors:	Shohei Matsuno, Hiroto Furuta, Kitaro Kosaka, Asako Doi, Tohru Yorifuji, Takuya Fukuda, Takafumi Senmaru, Shinsuke Uraki, Norihiko Matsutani, Machi Furuta, Hiroyuki Mishima, Hiroshi Iwakura, Masahiro Nishi, Kohichiro Yoshiura, Michiaki Fukui, Takashi Akamizu
Format:	Article
Language:	English
Published:	Wiley 2019-07-01
Series:	Journal of Diabetes Investigation
Subjects:	Early‐onset diabetes Insulin gene Mutation
Online Access:	https://doi.org/10.1111/jdi.12974

id	doaj-a5c572819c0f4e8f919686a3967e2949
record_format	Article
spelling	doaj-a5c572819c0f4e8f919686a3967e29492021-05-02T02:51:48ZengWileyJournal of Diabetes Investigation2040-11162040-11242019-07-0110494795010.1111/jdi.12974Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencingShohei Matsuno0Hiroto Furuta1Kitaro Kosaka2Asako Doi3Tohru Yorifuji4Takuya Fukuda5Takafumi Senmaru6Shinsuke Uraki7Norihiko Matsutani8Machi Furuta9Hiroyuki Mishima10Hiroshi Iwakura11Masahiro Nishi12Kohichiro Yoshiura13Michiaki Fukui14Takashi Akamizu15The First Department of Medicine Wakayama Medical University Wakayama JapanThe First Department of Medicine Wakayama Medical University Wakayama JapanDepartment of Pediatrics Kyoto Prefectural University of Medicine Kyoto JapanThe First Department of Medicine Wakayama Medical University Wakayama JapanDivision of Pediatric Endocrinology and Metabolism, Children's Medical Center Osaka City General Hospital Osaka JapanDepartment of Endocrinology and Metabolism Kyoto Prefectural University of Medicine Kyoto JapanDepartment of Endocrinology and Metabolism Kyoto Prefectural University of Medicine Kyoto JapanThe First Department of Medicine Wakayama Medical University Wakayama JapanThe First Department of Medicine Wakayama Medical University Wakayama JapanClinical Laboratory Medicine Wakayama Medical University Wakayama JapanDepartment of Human Genetics Nagasaki University Graduate School of Biomedical Sciences Nagasaki JapanThe First Department of Medicine Wakayama Medical University Wakayama JapanDepartment of Clinical Nutrition and Metabolism Wakayama Medical University Wakayama JapanDepartment of Human Genetics Nagasaki University Graduate School of Biomedical Sciences Nagasaki JapanDepartment of Endocrinology and Metabolism Kyoto Prefectural University of Medicine Kyoto JapanThe First Department of Medicine Wakayama Medical University Wakayama JapanAbstract Whole‐exome sequencing is a new technology. We used it to explore the gene responsible for early‐onset diabetes as a result of impaired insulin secretion in a family. In the INS gene, we identified the heterozygous c.188‐31G>A mutation in the proband – a 43‐year‐old woman. The mutation was also identified in her two daughters with diabetes, but not in her son or her parents, all of whom did not have diabetes. The substitution was located 31 bp proximal to exon 3 in intron 2. It was predicted to create an ectopic splice site leading to inserting 29 nucleotides of intron 2 as an exonic sequence in the transcript. The mutation has been reported in White families, and the present case is the first report in an Asian person. The present results would help in understanding the role of the mutation in developing diabetes.https://doi.org/10.1111/jdi.12974Early‐onset diabetesInsulin geneMutation
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Shohei Matsuno Hiroto Furuta Kitaro Kosaka Asako Doi Tohru Yorifuji Takuya Fukuda Takafumi Senmaru Shinsuke Uraki Norihiko Matsutani Machi Furuta Hiroyuki Mishima Hiroshi Iwakura Masahiro Nishi Kohichiro Yoshiura Michiaki Fukui Takashi Akamizu
spellingShingle	Shohei Matsuno Hiroto Furuta Kitaro Kosaka Asako Doi Tohru Yorifuji Takuya Fukuda Takafumi Senmaru Shinsuke Uraki Norihiko Matsutani Machi Furuta Hiroyuki Mishima Hiroshi Iwakura Masahiro Nishi Kohichiro Yoshiura Michiaki Fukui Takashi Akamizu Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing Journal of Diabetes Investigation Early‐onset diabetes Insulin gene Mutation
author_facet	Shohei Matsuno Hiroto Furuta Kitaro Kosaka Asako Doi Tohru Yorifuji Takuya Fukuda Takafumi Senmaru Shinsuke Uraki Norihiko Matsutani Machi Furuta Hiroyuki Mishima Hiroshi Iwakura Masahiro Nishi Kohichiro Yoshiura Michiaki Fukui Takashi Akamizu
author_sort	Shohei Matsuno
title	Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing
title_short	Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing
title_full	Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing
title_fullStr	Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing
title_full_unstemmed	Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing
title_sort	identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing
publisher	Wiley
series	Journal of Diabetes Investigation
issn	2040-1116 2040-1124
publishDate	2019-07-01
description	Abstract Whole‐exome sequencing is a new technology. We used it to explore the gene responsible for early‐onset diabetes as a result of impaired insulin secretion in a family. In the INS gene, we identified the heterozygous c.188‐31G>A mutation in the proband – a 43‐year‐old woman. The mutation was also identified in her two daughters with diabetes, but not in her son or her parents, all of whom did not have diabetes. The substitution was located 31 bp proximal to exon 3 in intron 2. It was predicted to create an ectopic splice site leading to inserting 29 nucleotides of intron 2 as an exonic sequence in the transcript. The mutation has been reported in White families, and the present case is the first report in an Asian person. The present results would help in understanding the role of the mutation in developing diabetes.
topic	Early‐onset diabetes Insulin gene Mutation
url	https://doi.org/10.1111/jdi.12974
work_keys_str_mv	AT shoheimatsuno identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT hirotofuruta identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT kitarokosaka identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT asakodoi identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT tohruyorifuji identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT takuyafukuda identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT takafumisenmaru identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT shinsukeuraki identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT norihikomatsutani identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT machifuruta identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT hiroyukimishima identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT hiroshiiwakura identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT masahironishi identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT kohichiroyoshiura identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT michiakifukui identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing AT takashiakamizu identificationofavariantassociatedwithearlyonsetdiabetesintheintronoftheinsulingenewithexomesequencing
_version_	1721495979891359744

Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing

Similar Items