PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene

Author:

Persico Tiziana1,Tranquillo Maria Lucrezia2,Seracchioli Renato23ORCID,Zuccarello Daniela4ORCID,Sorrentino Ugo4ORCID

Affiliation:

1. Medically Assisted Procreation Center, Maternal and Child Department, Beauregard Hospital, Valle D’Aosta Local Public Health, 11100 Aoste, Italy

2. Department of Medical and Surgical Sciences, University of Bologna, 40126 Bologna, Italy

3. Division of Gynaecology and Human Reproduction Physiopathology, IRCCS Azienda Ospedaliero, University of Bologna, 40138 Bologna, Italy

4. Clinical Genetics and Epidemiology Unit, University of Padova, 35128 Padova, Italy

Abstract

Primary ovarian failure (POF) is caused by follicle exhaustion and is associated with menstrual irregularities and elevated gonadotropin levels, which lead to infertility before the age of 40 years. The etiology of POI is mostly unknown, but a heterogeneous genetic and familial background can be identified in a subset of cases. Abnormalities in the fragile X mental retardation 1 gene (FMR1) are among the most prevalent monogenic causes of POI. These abnormalities are caused by the expansion of an unstable CGG repeat in the 5′ untranslated region of FMR1. Expansions over 200 repeats cause fragile X syndrome (FXS), whereas expansions between 55 and 200 CGG repeats, which are defined as a fragile X premutation, have been associated with premature ovarian failure type 1 (POF1) in heterozygous females. Preimplantation genetic testing for monogenic diseases (PGT-M) can be proposed when the female carries a premutation or a full mutation. In this narrative review, we aim to recapitulate the clinical and molecular features of POF1 and their implications in the context of PGT-M.

Funder

European Union-Next Generation EU-PNRR M6C2-Investimento 2.1 Valorizzazione e potenziamento della ricerca biomedica del SSN

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3