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Genet Med ; 22(12): 1967-1975, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32719396

RESUMO

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.


Assuntos
Infertilidade Masculina , Oligospermia , Animais , Proteínas Argonautas , Proteínas de Transporte , Proteínas de Ciclo Celular , Deleção Cromossômica , Cromossomos Humanos Y , Genômica , Humanos , Infertilidade Masculina/genética , Masculino , Camundongos , Oligospermia/genética , Aberrações dos Cromossomos Sexuais
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