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Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.
Fonseca, Dora Janeth; Patiño, Liliana Catherine; Suárez, Yohjana Carolina; de Jesús Rodríguez, Asid; Mateus, Heidi Eliana; Jiménez, Karen Marcela; Ortega-Recalde, Oscar; Díaz-Yamal, Ivonne; Laissue, Paul.
Afiliação
  • Fonseca DJ; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia.
  • Patiño LC; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia.
  • Suárez YC; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia.
  • de Jesús Rodríguez A; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia.
  • Mateus HE; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia.
  • Jiménez KM; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia.
  • Ortega-Recalde O; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia.
  • Díaz-Yamal I; Unidad de Fertilidad PMA, Clínica Marly, Bogota, Colombia.
  • Laissue P; Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia. Electronic address: paul.laissue@urosario.edu.co.
Fertil Steril ; 104(1): 154-62.e2, 2015 Jul.
Article em En | MEDLINE | ID: mdl-25989972
OBJECTIVE: To identify new molecular actors involved in nonsyndromic premature ovarian failure (POF) etiology. DESIGN: This is a retrospective case-control cohort study. SETTING: University research group and IVF medical center. PATIENT(S): Twelve women affected by nonsyndromic POF. The control group included 176 women whose menopause had occurred after age 50 and had no antecedents regarding gynecological disease. A further 345 women from the same ethnic origin (general population group) were also recruited to assess allele frequency for potentially deleterious sequence variants. INTERVENTION(S): Next generation sequencing (NGS), Sanger sequencing, and bioinformatics analysis. MAIN OUTCOME MEASURE(S): The complete coding regions of 70 candidate genes were massively sequenced, via NGS, in POF patients. Bioinformatics and genetics were used to confirm NGS results and to identify potential sequence variants related to the disease pathogenesis. RESULT(S): We have identified mutations in two novel genes, ADAMTS19 and BMPR2, that are potentially related to POF origin. LHCGR mutations, which might have contributed to the phenotype, were also detected. CONCLUSION(S): We thus recommend NGS as a powerful tool for identifying new molecular actors in POF and for future diagnostic/prognostic purposes.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Insuficiência Ovariana Primária / Análise de Sequência / Proteínas ADAM / Receptores de Proteínas Morfogenéticas Ósseas Tipo II / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Revista: Fertil Steril Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Colômbia País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Insuficiência Ovariana Primária / Análise de Sequência / Proteínas ADAM / Receptores de Proteínas Morfogenéticas Ósseas Tipo II / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Revista: Fertil Steril Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Colômbia País de publicação: Estados Unidos