copy number variants in patients with severe oligozoospermia and sertoli-cell-only syndrome拷贝数变异患者严重症和sertoli-cell-only综合症.pdfVIP

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome ¨ 1 2 3 1 1 Frank Tuttelmann *, Manuela Simoni , Sabine Kliesch , Susanne Ledig , Bernd Dworniczak , Peter 1 ¨ 1 Wieacker , Albrecht Ropke ¨ ¨ 1 Institute of Human Genetics, University of Munster, Munster, Germany, 2 Department of Medicine, Endocrinology, Metabolism and Geriatrics, University of Modena and ¨ ¨ Reggio Emilia, Modena, Italy, 3 Department of Clinical Andrology, Centre of Reproductive Medicine and Andrology, University of Munster, Munster, Germany Abstract A genetic origin is estimated in 30% of infertile men with the common phenotypes of oligo- or azoospermia, but the pathogenesis of spermatogenic failure remains frequently obscure. To determine the involvement of Copy Number Variants (CNVs) in the origin of male infertility, patients with idiopathic severe oligozoospermia (N = 89), Sertoli-cell-only syndrome (SCOS, N = 37)) and controls with normozoospermia (N = 100) were analysed by array-CGH using the 244A/400K array sets (Agilent Technologies). The mean number of CNVs and the amount of DNA gain/loss were comparable between all groups. Ten recurring CNVs were only found in patients with severe oligozoospermia, three only in SCOS and one CNV in both groups with spermatogenic failure but not in normozoospermic men. Sex-chromosomal, mostly private CNVs were significantly overrepresented in patients with SCOS. CNVs found several times in all