• PMID: 27918162
• Gene Name: SPATA16
• Condition: Important for Spermatogenesis, Male infertility
• Association: Associated
• Mutation: 1526C>T + 1577T>C
• Population size: 107
• Population details: 107 patients with infertility (Gene responsible for mutation in 2 of the patients)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Important for Spermatogenesis, Male infertility

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

Hrdli?ka I, Chyl�kov� B, Vesel� K, Dankov� M, Jank? M, ?e��bek K, Mihalov� R, Li�ka F.

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. FAU - Hrdlička, I AU - Hrdlička I FAU - Chylíková, B AU - Chylíková B FAU - Veselá, K AU - Veselá K FAU - Danková, M AU - Danková M FAU - Janků, M AU - Janků M FAU - Řežábek, K AU - Řežábek K FAU - Mihalová, R AU - Mihalová R