title: NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.
abstract: Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. In this context, heterozygous mutations in NOBOX, BMP15 and GDF9 have been reported. The objective of our study was to evaluate the prevalence of these genes mutations in 125 unrelated Tunisian patients diagnosed with POI. The screening of NOBOX gene revealed three missense mutations (p.Arg117Trp; p.Gly91Trp and p.Pro619Leu) in eight patients. These mutations were not found in a 200 ethnically matched women without fertility problem. The sequencing of BMP15 and GDF9 gene revealed only previously reported variants. In contrast to previous studies, the prevalence of BMP15 variations is not higher than in the control population. Conversely, 6.4% of the cases present a NOBOX mutations; this high prevalence strengthens the consideration of NOBOX gene as strong autosomal candidate for POI.
authors: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000, Tunisia.
authors: N
authors: N
authors: Bouali
authors: Faculté de Médecine Paris Sud, INSERM UMR_S1185, University Paris Saclay, Univ Paris sud, Le Kremlin-Bicêtre, France.|Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service de Génétique moléculaire, Pharmacogénétique et Hormonologie, Le Kremlin-Bicêtre, France.
authors: B
authors: B
authors: Francou
authors: Faculté de Médecine Paris Sud, INSERM UMR_S1185, University Paris Saclay, Univ Paris sud, Le Kremlin-Bicêtre, France.|Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service de Génétique moléculaire, Pharmacogénétique et Hormonologie, Le Kremlin-Bicêtre, France.
authors: J
authors: J
authors: Bouligand
authors: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000, Tunisia.
authors: B
authors: B
authors: Lakhal
authors: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000, Tunisia.
authors: I
authors: I
authors: Malek
authors: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000, Tunisia.
authors: M
authors: M
authors: Kammoun
authors: Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service d'Epidémiologie, University Paris Saclay, University Paris-Sud, INSERM U1018 eq 4, Le Kremlin-Bicêtre, France.
authors: J
authors: J
authors: Warszawski
authors: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000, Tunisia.
authors: S
authors: S
authors: Mougou
authors: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000, Tunisia.
authors: A
authors: A
authors: Saad
authors: Faculté de Médecine Paris Sud, INSERM UMR_S1185, University Paris Saclay, Univ Paris sud, Le Kremlin-Bicêtre, France.|Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Service de Génétique moléculaire, Pharmacogénétique et Hormonologie, Le Kremlin-Bicêtre, France.
authors: A
authors: A
authors: Guiochon-Mantel
mesh_terms: D000328:Adult; D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods / Q000706:statistics & numerical data; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D015995:Prevalence; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014416:Tunisia / Q000453:epidemiology
chemical_list: D018398:Homeodomain Proteins; C506600:NOBOX protein, human; D014157:Transcription Factors
keywords: BMP15; GDF9; NOBOX; primary ovarian insufficiency