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

The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4541-4550 [Peer Reviewed Journal]

Copyright © 2016 by the Endocrine Society ;Copyright © 2016 by The Endocrine Society ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0021-972X ;EISSN: 1945-7197 ;DOI: 10.1210/jc.2016-2152 ;PMID: 27603904

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  • Title:
    Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency
  • Author: Bouilly, Justine ; Beau, Isabelle ; Barraud, Sara ; Bernard, Valérie ; Azibi, Kemal ; Fagart, Jérôme ; Fèvre, Anne ; Todeschini, Anne Laure ; Veitia, Reiner A ; Beldjord, Chérif ; Delemer, Brigitte ; Dodé, Catherine ; Young, Jacques ; Binart, Nadine
  • Subjects: Adolescent ; Adult ; Endocrinology and metabolism ; Female ; Genetic Loci ; Genetics ; Genotype ; Gynecology and obstetrics ; Human genetics ; Human health and pathology ; Humans ; Life Sciences ; Mutation ; Phenotype ; Primary Ovarian Insufficiency - genetics ; Sequence Analysis, DNA ; Young Adult
  • Is Part Of: The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4541-4550
  • Description: 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 variants in 19 known POI loci (and potential candidate genes) using next-generation sequencing. Results: At least one rare protein-altering gene variant was identified in 19 patients, including missense mutations in new candidate genes, namely SMC1β and REC8 (involved in the cohesin complex) and LHX8, a gene encoding a transcription factor. Novel or recurrent deleterious mutations were also detected in the known POI candidate genes NOBOX, FOXL2, SOHLH1, FIGLA, GDF9, BMP15, and GALT. Seven patients harbor mutations in two loci, and this digenicity seems to influence the age of symptom onset. Conclusions: Genetic anomalies in women with POI are more frequent than previously believed. Digenic findings in several cases suggest that POI is not a purely monogenic disorder and points to a role of digenicity. The genotype-phenotype correlations in some kindreds suggest that a synergistic effect of several mutations may underlie the POI phenotype. We screened 100 POI patients for variants in 19 candidate genes. Digenic findings in several cases suggest that POI is not purely monogenic disorder and points to a role of digenicity.
  • Publisher: United States: Endocrine Society
  • Language: English
  • Identifier: ISSN: 0021-972X
    EISSN: 1945-7197
    DOI: 10.1210/jc.2016-2152
    PMID: 27603904
  • Source: GFMER Free Medical Journals
    MEDLINE
    Alma/SFX Local Collection
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