NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.
Clin Genet
; 89(5): 608-13, 2016 05.
Article
em En
| MEDLINE
| ID: mdl-26848058
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
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Insuficiência Ovariana Primária
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Proteínas de Homeodomínio
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Predisposição Genética para Doença
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Mutação de Sentido Incorreto
Tipo de estudo:
Diagnostic_studies
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Prevalence_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adult
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Female
/
Humans
País/Região como assunto:
Africa
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Tunísia