Mutations in genes affecting fertility of men – current routine laboratory genetic diagnostics and searching for more DNA segments and genes influencing spermatogenesis

Authors: I. Hrdlička 1;  B. Chylíková 1;  K. Veselá 1;  M. Daňková 1;  M. Janků 1;  K. Řežábek 2;  R. Mihalová 1;  F. Liška 1
Authors‘ workplace: Ústav biologie a lékařské genetiky 1. LF UK a VFN, Praha, přednostka doc. MUDr. M. Kohoutová, CSc. 1;  Gynekologicko-porodnická klinika 1. LF UK a VFN, Praha, přednosta prof. MUDr. A. Martan, DrSc. 2
Published in: Čes. Gynek.2016, 81, č. 6 s. 437-443


To present the results of molecular genetics analysis in men with reproductive disorders focusing on the DNA segments and genes which affect spermatogenesis.

Original article.

Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital, Prague.

One hundred and twenty-three patients identified with a fertility disorder were screened for mutations of the CFTR gene. In all patients were performed cytogenic analysis and assessment of Y-chromosome microdeletions. In 107 patients where the fertility was not detected by routine examination we performed an analysis for X-chromosome microdeletions (CNV64, CNV67, CNV69) and in certain genes necessary for normal spermatogenesis (AGFG1, CAPZA3, CNTROB, HOOK1, GOPC, SPATA16).

Our results did not reveal any negative efffects of X-chromosome microdeletion on spermatogenesis. Analysis of six genes showed in two patients in gene SPATA16 a homozygotic haplotype [1526C>T + 1577T>C] which can be most probably responsible for the fertility in two examined patients.

According to our results we do not recommend introduction of X-chromosome microdeletions assays in areas CNV64 , CNV67 and CNV69 into routine diagnostic. Regarding the selected genes affecting spermatogenesis, our results showed that homozygotic haplotype [ 1526C>T + 1577T>C] in SPATA16 gene is very likely responsible for infertility in two of our patients. The above mentioned haplotype deserves attention in the investigation of male infertility.

male infertility, X-chromosome microdeletions, AGFG1 gene, CAPZA3 gene, CNTROB gene, HOOK1 gene, GOPC gene, SPATA16 gene


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Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine
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