Cargando…
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
BACKGROUND: Human growth hormone (hGH) plays a crucial role in growth by binding to growth hormone receptor (GHR) in target cells. Binding of GH molecules to their cognate receptors triggers downstream signaling pathways leading to the transcription of several genes, including insulin-like growth fa...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357607/ https://www.ncbi.nlm.nih.gov/pubmed/37474955 http://dx.doi.org/10.1186/s12902-023-01388-1 |
_version_ | 1785075528631320576 |
---|---|
author | Bitarafan, Fatemeh Khodaeian, Mehrnoosh Garrousi, Fatemeh Khalesi, Raziyeh Ghazi Nader, Donya Karimi, Behnam Alibakhshi, Reza Garshasbi, Masoud |
author_facet | Bitarafan, Fatemeh Khodaeian, Mehrnoosh Garrousi, Fatemeh Khalesi, Raziyeh Ghazi Nader, Donya Karimi, Behnam Alibakhshi, Reza Garshasbi, Masoud |
author_sort | Bitarafan, Fatemeh |
collection | PubMed |
description | BACKGROUND: Human growth hormone (hGH) plays a crucial role in growth by binding to growth hormone receptor (GHR) in target cells. Binding of GH molecules to their cognate receptors triggers downstream signaling pathways leading to the transcription of several genes, including insulin-like growth factor (IGF)-1. Pathogenic variants in the GHR gene can result in structural and functional defects in the GHR protein, leading to Laron Syndrome (LS) with the primary clinical manifestation of short stature. So far, around 100 GHR variants have been reported, mostly biallelic, as causing LS. CASE PRESENTATION: We report on three siblings from an Iranian consanguineous family who presented with dwarfism. Whole-exome sequencing (WES) was performed on the proband, revealing a novel homozygous missense variant in the GHR gene (NM_000163.5; c.610 T > A, p.(Trp204Arg)) classified as a likely pathogenic variant according to the recommendation of the American College of Medical Genetics (ACMG). Co-segregation analysis was investigated using Sanger sequencing. CONCLUSIONS: To date, approximately 400–500 LS cases with GHR biallelic variants, out of them 10 patients originating from Iran, have been described in the literature. Given the high rate of consanguineous marriages in the Iranian population, the frequency of LS is expected to be higher, which might be explained by undiagnosed cases. Early diagnosis of LS is very important, as treatment is available for this condition. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12902-023-01388-1. |
format | Online Article Text |
id | pubmed-10357607 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-103576072023-07-21 Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report Bitarafan, Fatemeh Khodaeian, Mehrnoosh Garrousi, Fatemeh Khalesi, Raziyeh Ghazi Nader, Donya Karimi, Behnam Alibakhshi, Reza Garshasbi, Masoud BMC Endocr Disord Case Report BACKGROUND: Human growth hormone (hGH) plays a crucial role in growth by binding to growth hormone receptor (GHR) in target cells. Binding of GH molecules to their cognate receptors triggers downstream signaling pathways leading to the transcription of several genes, including insulin-like growth factor (IGF)-1. Pathogenic variants in the GHR gene can result in structural and functional defects in the GHR protein, leading to Laron Syndrome (LS) with the primary clinical manifestation of short stature. So far, around 100 GHR variants have been reported, mostly biallelic, as causing LS. CASE PRESENTATION: We report on three siblings from an Iranian consanguineous family who presented with dwarfism. Whole-exome sequencing (WES) was performed on the proband, revealing a novel homozygous missense variant in the GHR gene (NM_000163.5; c.610 T > A, p.(Trp204Arg)) classified as a likely pathogenic variant according to the recommendation of the American College of Medical Genetics (ACMG). Co-segregation analysis was investigated using Sanger sequencing. CONCLUSIONS: To date, approximately 400–500 LS cases with GHR biallelic variants, out of them 10 patients originating from Iran, have been described in the literature. Given the high rate of consanguineous marriages in the Iranian population, the frequency of LS is expected to be higher, which might be explained by undiagnosed cases. Early diagnosis of LS is very important, as treatment is available for this condition. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12902-023-01388-1. BioMed Central 2023-07-20 /pmc/articles/PMC10357607/ /pubmed/37474955 http://dx.doi.org/10.1186/s12902-023-01388-1 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Bitarafan, Fatemeh Khodaeian, Mehrnoosh Garrousi, Fatemeh Khalesi, Raziyeh Ghazi Nader, Donya Karimi, Behnam Alibakhshi, Reza Garshasbi, Masoud Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report |
title | Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report |
title_full | Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report |
title_fullStr | Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report |
title_full_unstemmed | Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report |
title_short | Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report |
title_sort | reporting a novel growth hormone receptor gene variant in an iranian consanguineous pedigree with laron syndrome: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357607/ https://www.ncbi.nlm.nih.gov/pubmed/37474955 http://dx.doi.org/10.1186/s12902-023-01388-1 |
work_keys_str_mv | AT bitarafanfatemeh reportinganovelgrowthhormonereceptorgenevariantinaniranianconsanguineouspedigreewithlaronsyndromeacasereport AT khodaeianmehrnoosh reportinganovelgrowthhormonereceptorgenevariantinaniranianconsanguineouspedigreewithlaronsyndromeacasereport AT garrousifatemeh reportinganovelgrowthhormonereceptorgenevariantinaniranianconsanguineouspedigreewithlaronsyndromeacasereport AT khalesiraziyeh reportinganovelgrowthhormonereceptorgenevariantinaniranianconsanguineouspedigreewithlaronsyndromeacasereport AT ghazinaderdonya reportinganovelgrowthhormonereceptorgenevariantinaniranianconsanguineouspedigreewithlaronsyndromeacasereport AT karimibehnam reportinganovelgrowthhormonereceptorgenevariantinaniranianconsanguineouspedigreewithlaronsyndromeacasereport AT alibakhshireza reportinganovelgrowthhormonereceptorgenevariantinaniranianconsanguineouspedigreewithlaronsyndromeacasereport AT garshasbimasoud reportinganovelgrowthhormonereceptorgenevariantinaniranianconsanguineouspedigreewithlaronsyndromeacasereport |