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

Czech version

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: Ceska Gynekol 2016; 81(6): 437-443

Overview

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

Design:
Original article.

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

Methods:
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).

Results:
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.

Conclusion:
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.

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

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