How the FMR1 gene became relevant to female fertility and reproductive medicine

This manuscript describes the 6 year evolution of our center’s research into ovarian functions of the FMR1 gene, which led to the identification of a new normal CGGn range of 26–34. This “new” normal range, in turn, led to definitions of different alleles (haplotypes) based on whether no, one or bot...

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Main Authors:	Gleicher, Norbert, Kushnir, Vitaly A., Weghofer, Andrea, Barad, David H.
Format:	Online
Language:	English
Published:	Frontiers Media S.A. 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148646/

id	pubmed-4148646
recordtype	oai_dc
spelling	pubmed-41486462014-09-12 How the FMR1 gene became relevant to female fertility and reproductive medicine Gleicher, Norbert Kushnir, Vitaly A. Weghofer, Andrea Barad, David H. Genetics This manuscript describes the 6 year evolution of our center’s research into ovarian functions of the FMR1 gene, which led to the identification of a new normal CGGn range of 26–34. This “new” normal range, in turn, led to definitions of different alleles (haplotypes) based on whether no, one or both alleles are within range. Specific alleles then were demonstrated to represent distinct ovarian aging patterns, suggesting an important FMR1 function in follicle recruitment and ovarian depletion of follicles. So called low alleles, characterized by CGGn<26, appear associated with most significant negative effects on reproductive success. Those include occult primary ovarian insufficiency (OPOI), characterized by prematurely elevated follicle stimulating hormone (FSH) and prematurely low anti-Müllerian hormone, and significantly reduced clinical pregnancy rates in association with in vitro fertilization (IVF) in comparison to women with normal (norm) and high (CGGn>34) alleles. Because low FMR1 alleles present in approximately 25% of all females, FMR1 testing at young ages may offer an opportunity for earlier diagnosis of OPOI than current practice allows. Earlier diagnosis of OPOI, in turn, would give young women the options of reassessing their reproductive schedules and/or pursue fertility preservation via oocyte cryopreservation when most effective. Frontiers Media S.A. 2014-08-29 /pmc/articles/PMC4148646/ /pubmed/25221568 http://dx.doi.org/10.3389/fgene.2014.00284 Text en Copyright © 2014 Gleicher, Kushnir, Weghofer and Barad. http://creativecommons.org/licenses/by/3.0/ 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) or licensor 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.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Gleicher, Norbert Kushnir, Vitaly A. Weghofer, Andrea Barad, David H.
spellingShingle	Gleicher, Norbert Kushnir, Vitaly A. Weghofer, Andrea Barad, David H. How the FMR1 gene became relevant to female fertility and reproductive medicine
author_facet	Gleicher, Norbert Kushnir, Vitaly A. Weghofer, Andrea Barad, David H.
author_sort	Gleicher, Norbert
title	How the FMR1 gene became relevant to female fertility and reproductive medicine
title_short	How the FMR1 gene became relevant to female fertility and reproductive medicine
title_full	How the FMR1 gene became relevant to female fertility and reproductive medicine
title_fullStr	How the FMR1 gene became relevant to female fertility and reproductive medicine
title_full_unstemmed	How the FMR1 gene became relevant to female fertility and reproductive medicine
title_sort	how the fmr1 gene became relevant to female fertility and reproductive medicine
description	This manuscript describes the 6 year evolution of our center’s research into ovarian functions of the FMR1 gene, which led to the identification of a new normal CGGn range of 26–34. This “new” normal range, in turn, led to definitions of different alleles (haplotypes) based on whether no, one or both alleles are within range. Specific alleles then were demonstrated to represent distinct ovarian aging patterns, suggesting an important FMR1 function in follicle recruitment and ovarian depletion of follicles. So called low alleles, characterized by CGGn<26, appear associated with most significant negative effects on reproductive success. Those include occult primary ovarian insufficiency (OPOI), characterized by prematurely elevated follicle stimulating hormone (FSH) and prematurely low anti-Müllerian hormone, and significantly reduced clinical pregnancy rates in association with in vitro fertilization (IVF) in comparison to women with normal (norm) and high (CGGn>34) alleles. Because low FMR1 alleles present in approximately 25% of all females, FMR1 testing at young ages may offer an opportunity for earlier diagnosis of OPOI than current practice allows. Earlier diagnosis of OPOI, in turn, would give young women the options of reassessing their reproductive schedules and/or pursue fertility preservation via oocyte cryopreservation when most effective.
publisher	Frontiers Media S.A.
publishDate	2014
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148646/
_version_	1613129128189362176

How the FMR1 gene became relevant to female fertility and reproductive medicine

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