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New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L

Justine Bouilly1, Florence Roucher-Boulez, Anne Gompel

  • 1Inserm U693 (J.B., J.B., A.G.M., J.Y., N.B.), Le Kremlin-Bicêtre, F-94276, France; Université Paris-Sud (J.B., J.Y., N.B.), Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre, F-94276, France; Service d'Hormonologie, d'Endocrinologie Moléculaire et Des Maladies Rares (F.R.-B.), Centre De Biologie et Pathologie Est, Université Lyon 1, 69677 Bron, France; Unité de Gynécologie Endocrinienne (A.G.), Université Paris-Descartes, l'Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris Centre, 75014 Paris, France; l'Assistance Publique-Hôpitaux de Paris (H.B-G., J.Y., N.B.), Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Le Kremlin-Bicêtre, F-94276, France; Centre d'Aide Médicale à la Procréation (H.B-G.), CHI 94000 Créteil, France; Service de Biochimie et Génétique Moléculaire (K.A., C.B., C.D.), Hôpital Cochin, l'Assistance Publique-Hôpitaux de Paris Université Paris-Descartes, 75006 Paris, France; l'Assistance Publique-Hôpitaux de Paris (J.B., A.G.M.), Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Le Kremlin-Bicêtre, F-94276, France; and Service d'Endocrinologie-Diabète-Nutrition (A.-C.H., B.D.), Centre Hospitalier Universitaire de Reims-Hôpital Robert-Debré, 51092 Reims, France.

The Journal of Clinical Endocrinology and Metabolism
|December 17, 2014
PubMed
Summary
This summary is machine-generated.

Genetic mutations in the NOBOX gene are common in women with primary ovarian insufficiency (POI), a condition causing infertility. Researchers identified novel variants and a new target gene, KIT-L, offering insights into POI causes.

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Area of Science:

  • Genetics
  • Reproductive Biology
  • Endocrinology

Background:

  • Primary ovarian insufficiency (POI) affects 1% of women under 40, leading to anovulation and infertility.
  • Genetic factors are implicated in the etiology of POI.
  • NOBOX gene mutations have been previously linked to POI.

Purpose of the Study:

  • To determine the prevalence of NOBOX gene mutations in a large cohort of women diagnosed with POI.
  • To functionally characterize identified NOBOX variants.
  • To identify novel target genes regulated by NOBOX.

Main Methods:

  • Screening of 213 unrelated patients with POI for NOBOX mutations.
  • Functional analysis of identified mutations using luciferase reporter assays.
  • Testing the impact of mutations on the GDF9 promoter and the novel target gene KIT-L.

Main Results:

  • Five heterozygous NOBOX variants (3 novel, 2 recurrent) were identified in 12 POI patients.
  • These variants were absent in 724 control alleles from women with normal menopause age.
  • Identified mutations, including p.Gly91Thr and p.Arg117Trp, were shown to be deleterious to protein function.
  • KIT-L was confirmed as a direct NOBOX target gene.

Conclusions:

  • Heterozygous NOBOX mutations were found in 5.6% of the studied POI patients.
  • KIT-L is established as a direct transcriptional target of NOBOX.
  • These findings reinforce the significant association between rare NOBOX variants and the development of POI.