Cargando…
Rare variants in GPR3 in POI patients: a case series with review of literature
BACKGROUND: Premature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of the cases can be explained by genetic causes. G protein-coupled receptor 3 (GPR3) plays an important role in oocyte arrest, and Gpr3-deficient mice exhibited POI-like phenotypes. CASE PRESENTATION:...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623876/ https://www.ncbi.nlm.nih.gov/pubmed/37919810 http://dx.doi.org/10.1186/s13048-023-01282-3 |
_version_ | 1785130831012954112 |
---|---|
author | Ren, Shuting Zhang, Feng Shang, Lingyue Yang, Xi Pan, Yuncheng Zhang, Xiaojin Wu, Yanhua |
author_facet | Ren, Shuting Zhang, Feng Shang, Lingyue Yang, Xi Pan, Yuncheng Zhang, Xiaojin Wu, Yanhua |
author_sort | Ren, Shuting |
collection | PubMed |
description | BACKGROUND: Premature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of the cases can be explained by genetic causes. G protein-coupled receptor 3 (GPR3) plays an important role in oocyte arrest, and Gpr3-deficient mice exhibited POI-like phenotypes. CASE PRESENTATION: We identified two heterozygous missense variants of GPR3: NM_005281: c.C973T (p.R325C) and c.G772A (p.A258T) in two sporadic Han Chinese POI cases through whole exome sequencing and genetic analysis. The two patients were diagnosed as POI in their late 20s, presenting elevated serum levels of follicle stimulating hormone and secondary amenorrhea. Both variants are very rare in the population databases of ExAC, gnomAD and PGG.Han. The affected amino acids are conserved across species and the mutated amino acids are predicted deleterious with bioinformatics prediction tools and the protein three-dimensional structure analysis. CONCLUSIONS: It is the first report of rare GPR3 variants associated with POI women, providing an important piece of evidence for GPR3 as a candidate gene which should be screened in POI. This finding suggested the necessity of including GPR3 in etiology study and genetic counseling of POI patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13048-023-01282-3. |
format | Online Article Text |
id | pubmed-10623876 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-106238762023-11-04 Rare variants in GPR3 in POI patients: a case series with review of literature Ren, Shuting Zhang, Feng Shang, Lingyue Yang, Xi Pan, Yuncheng Zhang, Xiaojin Wu, Yanhua J Ovarian Res Case Report BACKGROUND: Premature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of the cases can be explained by genetic causes. G protein-coupled receptor 3 (GPR3) plays an important role in oocyte arrest, and Gpr3-deficient mice exhibited POI-like phenotypes. CASE PRESENTATION: We identified two heterozygous missense variants of GPR3: NM_005281: c.C973T (p.R325C) and c.G772A (p.A258T) in two sporadic Han Chinese POI cases through whole exome sequencing and genetic analysis. The two patients were diagnosed as POI in their late 20s, presenting elevated serum levels of follicle stimulating hormone and secondary amenorrhea. Both variants are very rare in the population databases of ExAC, gnomAD and PGG.Han. The affected amino acids are conserved across species and the mutated amino acids are predicted deleterious with bioinformatics prediction tools and the protein three-dimensional structure analysis. CONCLUSIONS: It is the first report of rare GPR3 variants associated with POI women, providing an important piece of evidence for GPR3 as a candidate gene which should be screened in POI. This finding suggested the necessity of including GPR3 in etiology study and genetic counseling of POI patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13048-023-01282-3. BioMed Central 2023-11-03 /pmc/articles/PMC10623876/ /pubmed/37919810 http://dx.doi.org/10.1186/s13048-023-01282-3 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 Ren, Shuting Zhang, Feng Shang, Lingyue Yang, Xi Pan, Yuncheng Zhang, Xiaojin Wu, Yanhua Rare variants in GPR3 in POI patients: a case series with review of literature |
title | Rare variants in GPR3 in POI patients: a case series with review of literature |
title_full | Rare variants in GPR3 in POI patients: a case series with review of literature |
title_fullStr | Rare variants in GPR3 in POI patients: a case series with review of literature |
title_full_unstemmed | Rare variants in GPR3 in POI patients: a case series with review of literature |
title_short | Rare variants in GPR3 in POI patients: a case series with review of literature |
title_sort | rare variants in gpr3 in poi patients: a case series with review of literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623876/ https://www.ncbi.nlm.nih.gov/pubmed/37919810 http://dx.doi.org/10.1186/s13048-023-01282-3 |
work_keys_str_mv | AT renshuting rarevariantsingpr3inpoipatientsacaseserieswithreviewofliterature AT zhangfeng rarevariantsingpr3inpoipatientsacaseserieswithreviewofliterature AT shanglingyue rarevariantsingpr3inpoipatientsacaseserieswithreviewofliterature AT yangxi rarevariantsingpr3inpoipatientsacaseserieswithreviewofliterature AT panyuncheng rarevariantsingpr3inpoipatientsacaseserieswithreviewofliterature AT zhangxiaojin rarevariantsingpr3inpoipatientsacaseserieswithreviewofliterature AT wuyanhua rarevariantsingpr3inpoipatientsacaseserieswithreviewofliterature |