Assessing the impact of Copy Number Variation on severe spermatogenic impairment with exome data

Lopes, AlexandraNagirnaja, LiinaFilipa, CarvalhoGonçalves, JoãoFernades, SusanaPereira-Caetano, IrisAlmstrup, KristianRajpert-De Meyts, EwaSeixas, SusanaHouston, BrendanBarros, AlbertoO’Bryan, MoiraAston, KennethConrad, Donaldon Behalf of the GEMINI Consortium2019-02-252019-02-252018-05-23http://hdl.handle.net/10400.18/5942Background: Azoospermia, the most severe form of male infertility, affects approximately 1% of men worldwide and in the great majority of the cases the etiology of the disease remains unidentified. Given the large number of genes involved in spermatogenesis it is likely that a proportion of cases of idiopathic azoospermia have a genetic basis. We have previously described, using SNP arrays, an excess of low frequency copy number variants (CNVs) in both the autosomes and the sex chromosomes in non-obstructive azoospermia (NOA) suggesting an heterogeneous genetic ethiology for this condition.engCNVAzoospermiaMale InfertilityDoenças GenéticasAssessing the impact of Copy Number Variation on severe spermatogenic impairment with exome dataconference object