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Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing
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 i...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626945/ https://www.ncbi.nlm.nih.gov/pubmed/30414308 http://dx.doi.org/10.1111/jdi.12974 |
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author | Matsuno, Shohei Furuta, Hiroto Kosaka, Kitaro Doi, Asako Yorifuji, Tohru Fukuda, Takuya Senmaru, Takafumi Uraki, Shinsuke Matsutani, Norihiko Furuta, Machi Mishima, Hiroyuki Iwakura, Hiroshi Nishi, Masahiro Yoshiura, Kohichiro Fukui, Michiaki Akamizu, Takashi |
author_facet | Matsuno, Shohei Furuta, Hiroto Kosaka, Kitaro Doi, Asako Yorifuji, Tohru Fukuda, Takuya Senmaru, Takafumi Uraki, Shinsuke Matsutani, Norihiko Furuta, Machi Mishima, Hiroyuki Iwakura, Hiroshi Nishi, Masahiro Yoshiura, Kohichiro Fukui, Michiaki Akamizu, Takashi |
author_sort | Matsuno, Shohei |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6626945 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-66269452019-07-17 Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing Matsuno, Shohei Furuta, Hiroto Kosaka, Kitaro Doi, Asako Yorifuji, Tohru Fukuda, Takuya Senmaru, Takafumi Uraki, Shinsuke Matsutani, Norihiko Furuta, Machi Mishima, Hiroyuki Iwakura, Hiroshi Nishi, Masahiro Yoshiura, Kohichiro Fukui, Michiaki Akamizu, Takashi J Diabetes Investig Articles 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. John Wiley and Sons Inc. 2018-12-05 2019-07 /pmc/articles/PMC6626945/ /pubmed/30414308 http://dx.doi.org/10.1111/jdi.12974 Text en © 2018 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Articles Matsuno, Shohei Furuta, Hiroto Kosaka, Kitaro Doi, Asako Yorifuji, Tohru Fukuda, Takuya Senmaru, Takafumi Uraki, Shinsuke Matsutani, Norihiko Furuta, Machi Mishima, Hiroyuki Iwakura, Hiroshi Nishi, Masahiro Yoshiura, Kohichiro Fukui, Michiaki Akamizu, Takashi Identification of a variant associated with early‐onset diabetes in the intron of the insulin gene with exome sequencing |
title | 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_short | 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 |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626945/ https://www.ncbi.nlm.nih.gov/pubmed/30414308 http://dx.doi.org/10.1111/jdi.12974 |
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