Cargando…
Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene
Type A Insulin resistance syndrome (TAIRS) is an autosomal dominant or recessive genetic disorder caused by insulin dysfunction resulting from insulin receptor (INSR) gene mutation. The main features of TAIRS include hyperinsulinemia, abnormal glucose metabolism, and changes in acanthosis nigricans....
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9134870/ https://www.ncbi.nlm.nih.gov/pubmed/35634501 http://dx.doi.org/10.3389/fendo.2022.895424 |
_version_ | 1784713844834172928 |
---|---|
author | You, Wei Yang, Jianming Wang, Lu Liu, Yanqun Wang, Wen Zhu, Li Wang, Wei Yang, Jun Chen, Fangyuan |
author_facet | You, Wei Yang, Jianming Wang, Lu Liu, Yanqun Wang, Wen Zhu, Li Wang, Wei Yang, Jun Chen, Fangyuan |
author_sort | You, Wei |
collection | PubMed |
description | Type A Insulin resistance syndrome (TAIRS) is an autosomal dominant or recessive genetic disorder caused by insulin dysfunction resulting from insulin receptor (INSR) gene mutation. The main features of TAIRS include hyperinsulinemia, abnormal glucose metabolism, and changes in acanthosis nigricans. We identified, in China, a TAIRS family with a novel heterozygous missense gene mutation type. One patient from the Chinese Han family exhibited signs and symptoms of TAIRS and was presented for evaluation. Whole-exome sequencing revealed a heterozygous mutation. Both the patient proband and his father were identified with insulin receptor exon 19c.3472C>T(p.Arg1158Trp), which resulted in a missense mutation that led to replace by a base in the amino acid codon. We found that the patient proband and his father exhibited high insulin and C-peptide release after glucose stimulation by insulin and C-peptide release tests. At the same time, we also ruled out the possibility of islet βcell tumor through relevant examinations. These findings indicate that the INSR gene mutation may cause pancreatic β cell functional impairment and contribute to the development of diabetes. |
format | Online Article Text |
id | pubmed-9134870 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-91348702022-05-27 Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene You, Wei Yang, Jianming Wang, Lu Liu, Yanqun Wang, Wen Zhu, Li Wang, Wei Yang, Jun Chen, Fangyuan Front Endocrinol (Lausanne) Endocrinology Type A Insulin resistance syndrome (TAIRS) is an autosomal dominant or recessive genetic disorder caused by insulin dysfunction resulting from insulin receptor (INSR) gene mutation. The main features of TAIRS include hyperinsulinemia, abnormal glucose metabolism, and changes in acanthosis nigricans. We identified, in China, a TAIRS family with a novel heterozygous missense gene mutation type. One patient from the Chinese Han family exhibited signs and symptoms of TAIRS and was presented for evaluation. Whole-exome sequencing revealed a heterozygous mutation. Both the patient proband and his father were identified with insulin receptor exon 19c.3472C>T(p.Arg1158Trp), which resulted in a missense mutation that led to replace by a base in the amino acid codon. We found that the patient proband and his father exhibited high insulin and C-peptide release after glucose stimulation by insulin and C-peptide release tests. At the same time, we also ruled out the possibility of islet βcell tumor through relevant examinations. These findings indicate that the INSR gene mutation may cause pancreatic β cell functional impairment and contribute to the development of diabetes. Frontiers Media S.A. 2022-05-12 /pmc/articles/PMC9134870/ /pubmed/35634501 http://dx.doi.org/10.3389/fendo.2022.895424 Text en Copyright © 2022 You, Yang, Wang, Liu, Wang, Zhu, Wang, Yang and Chen https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Endocrinology You, Wei Yang, Jianming Wang, Lu Liu, Yanqun Wang, Wen Zhu, Li Wang, Wei Yang, Jun Chen, Fangyuan Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene |
title | Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene |
title_full | Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene |
title_fullStr | Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene |
title_full_unstemmed | Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene |
title_short | Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene |
title_sort | case report: a chinese family of type a insulin resistance syndrome with diabetes mellitus, with a novel heterozygous missense mutation of the insulin receptor gene |
topic | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9134870/ https://www.ncbi.nlm.nih.gov/pubmed/35634501 http://dx.doi.org/10.3389/fendo.2022.895424 |
work_keys_str_mv | AT youwei casereportachinesefamilyoftypeainsulinresistancesyndromewithdiabetesmellituswithanovelheterozygousmissensemutationoftheinsulinreceptorgene AT yangjianming casereportachinesefamilyoftypeainsulinresistancesyndromewithdiabetesmellituswithanovelheterozygousmissensemutationoftheinsulinreceptorgene AT wanglu casereportachinesefamilyoftypeainsulinresistancesyndromewithdiabetesmellituswithanovelheterozygousmissensemutationoftheinsulinreceptorgene AT liuyanqun casereportachinesefamilyoftypeainsulinresistancesyndromewithdiabetesmellituswithanovelheterozygousmissensemutationoftheinsulinreceptorgene AT wangwen casereportachinesefamilyoftypeainsulinresistancesyndromewithdiabetesmellituswithanovelheterozygousmissensemutationoftheinsulinreceptorgene AT zhuli casereportachinesefamilyoftypeainsulinresistancesyndromewithdiabetesmellituswithanovelheterozygousmissensemutationoftheinsulinreceptorgene AT wangwei casereportachinesefamilyoftypeainsulinresistancesyndromewithdiabetesmellituswithanovelheterozygousmissensemutationoftheinsulinreceptorgene AT yangjun casereportachinesefamilyoftypeainsulinresistancesyndromewithdiabetesmellituswithanovelheterozygousmissensemutationoftheinsulinreceptorgene AT chenfangyuan casereportachinesefamilyoftypeainsulinresistancesyndromewithdiabetesmellituswithanovelheterozygousmissensemutationoftheinsulinreceptorgene |