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....

Descripción completa

Detalles Bibliográficos
Autores principales: You, Wei, Yang, Jianming, Wang, Lu, Liu, Yanqun, Wang, Wen, Zhu, Li, Wang, Wei, Yang, Jun, Chen, Fangyuan
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