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A genomics approach to male infertility.
Alhathal, Naif; Maddirevula, Sateesh; Coskun, Serdar; Alali, Hamed; Assoum, Mirna; Morris, Thomas; Deek, Hesham A; Hamed, Soha A; Alsuhaibani, Shaheed; Mirdawi, Abdulmalik; Ewida, Nour; Al-Qahtani, Mashael; Ibrahim, Niema; Abdulwahab, Firdous; Altaweel, Waleed; Dasouki, Majed J; Assiri, Abdullah; Qabbaj, Wafa; Alkuraya, Fowzan S.
Afiliación
  • Alhathal N; Department of Urology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Coskun S; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center and College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Alali H; Department of Urology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Assoum M; Department of Urology, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
  • Morris T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Deek HA; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center and College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Hamed SA; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center and College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Alsuhaibani S; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center and College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Mirdawi A; Department of Urology, King Fahad University Hospital, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
  • Ewida N; Department of Urology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Qahtani M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Altaweel W; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Dasouki MJ; Department of Urology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Assiri A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Qabbaj W; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center and College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Alkuraya FS; Comparative Medicine Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Genet Med ; 22(12): 1967-1975, 2020 12.
Article en En | MEDLINE | ID: mdl-32719396
ABSTRACT

PURPOSE:

Male infertility remains poorly understood at the molecular level. We aimed in this study to investigate the yield of a "genomics first" approach to male infertility.

METHODS:

Patients with severe oligospermia and nonobstructive azoospermia were investigated using exome sequencing (ES) in parallel with the standard practice of chromosomal analysis.

RESULTS:

In 285 patients, 10.5% (n = 30) had evidence of chromosomal aberrations while nearly a quarter (n = 69; 24.2%) had a potential monogenic form of male infertility. The latter ranged from variants in genes previously reported to cause male infertility with or without other phenotypes in humans (24 patients; 8.4%) to those in novel candidate genes reported in this study (37 patients; 12.9%). The 33 candidate genes have biological links to male germ cell development including compatible mouse knockouts, and a few (TERB1 [CCDC79], PIWIL2, MAGEE2, and ZSWIM7) were found to be independently mutated in unrelated patients in our cohort. We also found that male infertility can be the sole or major phenotypic expression of a number of genes that are known to cause multisystemic manifestations in humans (n = 9 patients; 3.1%).

CONCLUSION:

The standard approach to male infertility overlooks the significant contribution of monogenic causes to this important clinical entity.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Oligospermia / Infertilidad Masculina Límite: Animals / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Oligospermia / Infertilidad Masculina Límite: Animals / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita