Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations

Dora Janeth Fonseca, Liliana Catherine Patiño, Yohjana Carolina Suárez, Asid De Jesús Rodríguez, Heidi Eliana Mateus, Karen M. Jiménez, Oscar Ortega-Recalde, Ivonne Díaz-Yamal, Paul Laissue

Resultado de la investigación: Contribución a una revistaArtículo

28 Citas (Scopus)

Resumen

© 2015 American Society for Reproductive Medicine.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.
Idioma originalInglés estadounidense
Páginas (desde-hasta)154-162.e2
Número de páginas137
PublicaciónFertility and Sterility
DOI
EstadoPublicada - jul 1 2015

Huella dactilar

Primary Ovarian Insufficiency
Mutation
Genes
Computational Biology
Menopause
Population Groups
Gene Frequency
Case-Control Studies
Cohort Studies
Outcome Assessment (Health Care)
Phenotype
Control Groups
Research

Citar esto

Fonseca, Dora Janeth ; Patiño, Liliana Catherine ; Suárez, Yohjana Carolina ; De Jesús Rodríguez, Asid ; Mateus, Heidi Eliana ; Jiménez, Karen M. ; Ortega-Recalde, Oscar ; Díaz-Yamal, Ivonne ; Laissue, Paul. / Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations. En: Fertility and Sterility. 2015 ; pp. 154-162.e2.
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title = "Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations",
abstract = "{\circledC} 2015 American Society for Reproductive Medicine.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.",
author = "Fonseca, {Dora Janeth} and Pati{\~n}o, {Liliana Catherine} and Su{\'a}rez, {Yohjana Carolina} and {De Jes{\'u}s Rodr{\'i}guez}, Asid and Mateus, {Heidi Eliana} and Jim{\'e}nez, {Karen M.} and Oscar Ortega-Recalde and Ivonne D{\'i}az-Yamal and Paul Laissue",
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Fonseca, DJ, Patiño, LC, Suárez, YC, De Jesús Rodríguez, A, Mateus, HE, Jiménez, KM, Ortega-Recalde, O, Díaz-Yamal, I & Laissue, P 2015, 'Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations', Fertility and Sterility, pp. 154-162.e2. https://doi.org/10.1016/j.fertnstert.2015.04.016

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 M.; Ortega-Recalde, Oscar; Díaz-Yamal, Ivonne; Laissue, Paul.

En: Fertility and Sterility, 01.07.2015, p. 154-162.e2.

Resultado de la investigación: Contribución a una revistaArtículo

TY - JOUR

T1 - Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations

AU - Fonseca, Dora Janeth

AU - Patiño, Liliana Catherine

AU - Suárez, Yohjana Carolina

AU - De Jesús Rodríguez, Asid

AU - Mateus, Heidi Eliana

AU - Jiménez, Karen M.

AU - Ortega-Recalde, Oscar

AU - Díaz-Yamal, Ivonne

AU - Laissue, Paul

PY - 2015/7/1

Y1 - 2015/7/1

N2 - © 2015 American Society for Reproductive Medicine.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.

AB - © 2015 American Society for Reproductive Medicine.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.

U2 - 10.1016/j.fertnstert.2015.04.016

DO - 10.1016/j.fertnstert.2015.04.016

M3 - Article

SP - 154-162.e2

JO - Fertility and Sterility

JF - Fertility and Sterility

SN - 0015-0282

ER -