Literature DB >> 27432256

The impact of FMR1 gene mutations on human reproduction and development: a systematic review.

Vincenzo Noto1,2, Conor Harrity1, David Walsh1, Kevin Marron3.   

Abstract

PURPOSE: This is a comprehensive review of the literature in this field attempting to put the FMR1 gene and its evaluation into context, both in general and for the reproductive health audience.
METHODS: Online database search of publications with systematic review of all papers relevant to ovarian reserve and assisted reproduction was done.
RESULTS: Relevant papers were identified and assessed, and an attempt was made to understand, rationalize and explain the divergent views in this field of study. Seminal and original illustrations were employed.
CONCLUSIONS: FMR1 is a highly conserved gene whose interpretation and effect on outcomes remains controversial in the reproductive health setting. Recent re-evaluations of the commonly accepted normal range have yielded interesting tools for possibly explaining unexpected outcomes in assisted reproduction. Fragile X investigations should perhaps become more routinely assessed in the reproductive health setting, particularly following a failed treatment cycle where oocyte quality is thought to be a contributing factor, or in the presence of a surprise finding of diminished ovarian reserve in a young patient.

Entities:  

Keywords:  Assisted reproductive technology; FMR1; Fragile X; Genetics; Reproduction; Testing

Mesh:

Substances:

Year:  2016        PMID: 27432256      PMCID: PMC5010819          DOI: 10.1007/s10815-016-0765-6

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN: 1058-0468            Impact factor:   3.412


  109 in total

1.  Ovarian histopathological and ubiquitin-immunophenotypic features in fragile X-associated primary ovarian insufficiency: a study of five cases and selected controls.

Authors:  Martin C Chang; John J DeCaro; Mei Zheng; Marla Gearing; Lisa Shubeck; Stephanie L Sherman; Corrine K Welt
Journal:  Histopathology       Date:  2011-10-18       Impact factor: 5.087

2.  Association of FMR1 repeat size with ovarian dysfunction.

Authors:  A K Sullivan; M Marcus; M P Epstein; E G Allen; A E Anido; J J Paquin; M Yadav-Shah; S L Sherman
Journal:  Hum Reprod       Date:  2004-12-17       Impact factor: 6.918

Review 3.  Premature ovarian failure.

Authors:  Deepti Goswami; Gerard S Conway
Journal:  Horm Res       Date:  2007-05-09

4.  Population screening for fragile X.

Authors:  G Turner; H Robinson; S Laing; M van den Berk; A Colley; A Goddard; S Sherman; M Partington
Journal:  Lancet       Date:  1992-05-16       Impact factor: 79.321

Review 5.  Lessons from fragile X regarding neurobiology, autism, and neurodegeneration.

Authors:  Randi J Hagerman
Journal:  J Dev Behav Pediatr       Date:  2006-02       Impact factor: 2.225

6.  Premature ovarian failure and fragile X premutation: a study on 45 women.

Authors:  Cecilia Bussani; Laura Papi; Roberta Sestini; Fulvia Baldinotti; Sandra Bucciantini; Vincenzina Bruni; Gianfranco Scarselli
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  2004-02-10       Impact factor: 2.435

7.  AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.

Authors:  Carolyn M Yrigollen; Blythe Durbin-Johnson; Louise Gane; David L Nelson; Randi Hagerman; Paul J Hagerman; Flora Tassone
Journal:  Genet Med       Date:  2012-04-12       Impact factor: 8.822

8.  Bivariate analysis of basal serum anti-Müllerian hormone measurements and human blastocyst development after IVF.

Authors:  E Scott Sills; Gary S Collins; Adam C Brady; David J Walsh; Kevin D Marron; Alison C Peck; Anthony P H Walsh; Rifaat D Salem
Journal:  Reprod Biol Endocrinol       Date:  2011-12-02       Impact factor: 5.211

Review 9.  Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.

Authors:  Randi J Hagerman; Deborah A Hall; Sarah Coffey; Maureen Leehey; James Bourgeois; John Gould; Lin Zhang; Andreea Seritan; Elizabeth Berry-Kravis; John Olichney; Joshua W Miller; Amy L Fong; Randall Carpenter; Cathy Bodine; Louise W Gane; Edgar Rainin; Hillary Hagerman; Paul J Hagerman
Journal:  Clin Interv Aging       Date:  2008       Impact factor: 4.458

10.  CREB/ATF-dependent T cell receptor-induced FoxP3 gene expression: a role for DNA methylation.

Authors:  Hyoung-Pyo Kim; Warren J Leonard
Journal:  J Exp Med       Date:  2007-06-25       Impact factor: 14.307

View more
  5 in total

1.  The expanding and contracting roles of the genome in regulation of the ovarian reserve.

Authors:  David F Albertini
Journal:  J Assist Reprod Genet       Date:  2016-09       Impact factor: 3.412

Review 2.  Fragile X syndrome: a review of clinical and molecular diagnoses.

Authors:  Claudia Ciaccio; Laura Fontana; Donatella Milani; Silvia Tabano; Monica Miozzo; Susanna Esposito
Journal:  Ital J Pediatr       Date:  2017-04-19       Impact factor: 2.638

3.  The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age.

Authors:  Yinan Ma; Xing Wei; Hong Pan; Songtao Wang; Xin Wang; Xiaowei Liu; Liying Zou; Xiaomei Wang; Xiaorong Wang; Hua Yang; Fengying Wang; Kefang Wang; Lifang Sun; Xiaolin Qiao; Yue Yang; Xiuhua Ma; Dandan Liu; Guifeng Ding; Junqi Ma; Xiuli Yang; Sainan Zhu; Yu Qi; Chenghong Yin
Journal:  BMC Med Genet       Date:  2019-05-16       Impact factor: 2.103

4.  Age of natural menopause onset in BRCA1/2 carriers - systematic review and meta-analysis.

Authors:  Łukasz Kępczyński; Katarzyna Połatyńska; Anna Nykel; Jordan Sałamunia; Tadeusz Kałużewski; Andrzej Kużawczyk; Agnieszka Gach
Journal:  Prz Menopauzalny       Date:  2021-01-07

Review 5.  Genetic determination of the ovarian reserve: a literature review.

Authors:  Aleksandra V Moiseeva; Varvara A Kudryavtseva; Vladimir N Nikolenko; Marine M Gevorgyan; Ara L Unanyan; Anastassia A Bakhmet; Mikhail Y Sinelnikov
Journal:  J Ovarian Res       Date:  2021-08-06       Impact factor: 4.234

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.