Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.

@article{Bouilly2016IdentificationOM,
  title={Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.},
  author={Justine Bouilly and Isabelle Beau and Sara Barraud and Val{\'e}rie Bernard and Kemal Azibi and J{\'e}r{\^o}me Fagart and Anne F{\`e}vre and Anne-Laure Todeschini and Reiner A. Veitia and Ch{\'e}rif Beldjord and Brigitte Delemer and Catherine Dod{\'e} and Jacques Young and Nadine Binart},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2016},
  volume={101 12},
  pages={
          4541-4550
        }
}
  • J. Bouilly, I. Beau, +11 authors N. Binart
  • Published 7 September 2016
  • Biology, Medicine
  • The Journal of clinical endocrinology and metabolism
CONTEXT Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40 years, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder. OBJECTIVE The aim of this study was to identify novel gene variations and to investigate if individuals with POI harbor mutation in multiple loci. PATIENTS AND METHODS One hundred well-phenotyped POI patients were systematically screened for… 
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Citation Type

Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency
TLDR
Aggregating clinical data and genetic risk with a categorical approach may expand the genetic architecture of heterozygous rare gene variants causing risk for POI.
New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing
TLDR
Fifty-five coding variants in 49 genes potentially related to POI were identified in 33 out of 69 patients, and these genes participate in key biological processes in the ovary, such as meiosis, follicular development, granulosa cell differentiation/proliferation and ovulation.
An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes
TLDR
The results of whole exome sequencing support the hypothesis of an oligogenic inheritance of such conditions, in addition to monogenic inheritance, and highlight the genetic heterogeneity of POI and early menopause.
Premature ovarian insufficiency – the need for a genomic map
  • B. Cloke, J. Rymer
  • Biology
    Climacteric : the journal of the International Menopause Society
  • 2021
TLDR
The development of a POI genomic map not only will assist in understanding the underlying molecular mechanisms affecting ovarian function but will also be essential in designing predictive and diagnostic gene panels as well as future novel therapeutic strategies.
Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset
TLDR
Bioinformatic gene ontology analysis identified the following major pathways likely affected by gene variants in POI and contribute to define POI as an oligogenic disease and suggest novel candidates to be investigated in patients with POI.
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency
TLDR
Next-generation sequencing (NGS) is a highly effective approach to identify the genetic diagnoses of heterogenous disorders, such as POI, which allowed us to improve the disease knowledge, guide decisions about prevention or treatment, and allow familial counseling avoiding future comorbidities.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency
TLDR
RNA sequencing of fetal gonad samples showed that ZSWIM7 has a similar temporal expression profile in the developing ovary to other homologous recombination genes, and this findings expand the range of genes associated with POI in women.
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology
TLDR
It is found that NOTCH2‐p.Ser1804Leu, p.Ala2316Val, and p.Pro2359Ala mutations had a functional impact on the protein's transcriptional activity, demonstrating for the first time that NotCH2 mutations contribute to POI etiology.
Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency
TLDR
Interestingly, the authors saw no significant differences in the previous family history of POI, ethnic origin, age at onset ofPOI, primary amenorrhea, or secondary menstrual disturbances between the different genotypes.
Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis
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References

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TLDR
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