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Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report
Insulin receptor (INSR) mutations lead to heterogeneous disorders that may be as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders usually harbor homozygous or compound heterozygous mutations. In contrast, type A insulin resistance syndrome...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7947722/ https://www.ncbi.nlm.nih.gov/pubmed/32018348 http://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0213 |
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author | Hacihamdioğlu, Bülent Baş, Elif Gülşah Delil, Kenan |
author_facet | Hacihamdioğlu, Bülent Baş, Elif Gülşah Delil, Kenan |
author_sort | Hacihamdioğlu, Bülent |
collection | PubMed |
description | Insulin receptor (INSR) mutations lead to heterogeneous disorders that may be as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders usually harbor homozygous or compound heterozygous mutations. In contrast, type A insulin resistance syndrome has been associated with heterozygous mutations; homozygous mutations are rarely responsible for this condition. We report a novel, homozygous mutation, p.Leu260Arg in exon 3, of the INSR gene in a female adolescent patient with type A insulin resistance syndrome together with clinical details of her medical follow-up. Different mutations in the INSR gene cause different phenotype and vary depending on the inheritance pattern. This report adds to the literature, increases understanding of the disease mechanism and aids in genetic counseling. |
format | Online Article Text |
id | pubmed-7947722 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Galenos Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-79477222021-03-23 Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report Hacihamdioğlu, Bülent Baş, Elif Gülşah Delil, Kenan J Clin Res Pediatr Endocrinol Case Report Insulin receptor (INSR) mutations lead to heterogeneous disorders that may be as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders usually harbor homozygous or compound heterozygous mutations. In contrast, type A insulin resistance syndrome has been associated with heterozygous mutations; homozygous mutations are rarely responsible for this condition. We report a novel, homozygous mutation, p.Leu260Arg in exon 3, of the INSR gene in a female adolescent patient with type A insulin resistance syndrome together with clinical details of her medical follow-up. Different mutations in the INSR gene cause different phenotype and vary depending on the inheritance pattern. This report adds to the literature, increases understanding of the disease mechanism and aids in genetic counseling. Galenos Publishing 2021-03 2021-02-26 /pmc/articles/PMC7947722/ /pubmed/32018348 http://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0213 Text en ©Copyright 2021 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Hacihamdioğlu, Bülent Baş, Elif Gülşah Delil, Kenan Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report |
title | Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report |
title_full | Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report |
title_fullStr | Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report |
title_full_unstemmed | Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report |
title_short | Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report |
title_sort | homozygous mutation in the insulin receptor gene associated with mild type a insulin resistance syndrome: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7947722/ https://www.ncbi.nlm.nih.gov/pubmed/32018348 http://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0213 |
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