Universität zu Köln

Wyrwoll, M. J., Wabschke, R., Roepke, A., Woeste, M., Ruckert, C., Perrey, S., Rotte, N., Hardy, J., Astica, L., Lupianez, D. G., Wistuba, J., Westernstroeer, B., Schlatt, S., Berman, A. J., Mueller, A. M., Kliesch, S., Yatsenko, A. N., Tuttelmann, F. and Friedrich, C. (2022). Analysis of copy number variation in men with non-obstructive azoospermia. Andrology, 10 (8). S. 1593 - 1605. HOBOKEN: WILEY. ISSN 2047-2927

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Abstract

Background Recent findings demonstrate that single nucleotide variants can cause non-obstructive azoospermia (NOA). In contrast, copy number variants (CNVs) were only analysed in few studies in infertile men. Some have reported a higher prevalence of CNVs in infertile versus fertile men. Objectives This study aimed to elucidate if CNVs are associated with NOA. Materials and methods We performed array-based comparative genomic hybridisation (aCGH) in 37 men with meiotic arrest, 194 men with Sertoli cell-only phenotype, and 21 control men. We filtered our data for deletions affecting genes and prioritised the affected genes according to the literature search. Prevalence of CNVs was compared between all groups. Exome data of 2,030 men were screened to detect further genetic variants in prioritised genes. Modelling was performed for the protein encoded by the novel candidate gene TEKT5 and we stained for TEKT5 in human testicular tissue. Results We determined the cause of infertility in two individuals with homozygous deletions of SYCE1 and in one individual with a heterozygous deletion of SYCE1 combined with a likely pathogenic missense variant on the second allele. We detected heterozygous deletions affecting MLH3, EIF2B2, SLX4, CLPP and TEKT5, in one subject each. CNVs were not detected more frequently in infertile men compared with controls. Discussion While SYCE1 and MLH3 encode known meiosis-specific proteins, much less is known about the proteins encoded by the other identified candidate genes, warranting further analyses. We were able to identify the cause of infertility in one out of the 231 infertile men by aCGH and in two men by using exome sequencing data. Conclusion As aCGH and exome sequencing are both expensive methods, combining both in a clinical routine is not an effective strategy. Instead, using CNV calling from exome data has recently become more precise, potentially making aCGH dispensable.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Wyrwoll, M. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wabschke, R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Roepke, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Woeste, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Ruckert, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Perrey, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rotte, N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hardy, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Astica, L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lupianez, D. G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wistuba, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Westernstroeer, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schlatt, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Berman, A. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mueller, A. M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kliesch, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Yatsenko, A. N. UNSPECIFIED UNSPECIFIED UNSPECIFIED Tuttelmann, F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Friedrich, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-686004
DOI:	10.1111/andr.13267
Journal or Publication Title:	Andrology
Volume:	10
Number:	8
Page Range:	S. 1593 - 1605
Date:	2022
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	2047-2927
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MEIOTIC ARREST; GENES; MUTATIONS; VARIANTS; SYCE1; SLX4; ICSI Multiple languages Andrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/68600