Journal article

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

MS Oud, O Okutman, LAJ Hendricks, PF de Vries, BJ Houston, LELM Vissers, MK O'Bryan, L Ramos, HE Chemes, S Viville, JA Veltman

HUMAN REPRODUCTION | OXFORD UNIV PRESS | Published : 2020

Abstract

STUDY QUESTION: Can exome sequencing identify new genetic causes of globozoospermia? SUMMARY ANSWER: Exome sequencing in 15 cases of unexplained globozoospermia revealed deleterious mutations in seven new genes, of which two have been validated as causing globozoospermia when knocked out in mouse models. WHAT IS KNOWN ALREADY: Globozoospermia is a rare form of male infertility characterised by round-headed sperm and malformation of the acrosome. Although pathogenic variants in DPY19L2 and SPATA16 are known causes of globozoospermia and explain up to 70% of all cases, genetic causality remains unexplained in the remaining patients. STUDY DESIGN, SIZE, DURATION: After pre-screening 16 men for ..

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Grants

Awarded by Netherlands Organisation for Scientific Research


Awarded by National Health and Medical Research Council of Australia


Awarded by National Council for Scientific Research of Argentina (CONICET)


Funding Acknowledgements

The Netherlands Organisation for Scientific Research (918-15667); National Health and Medical Research Council of Australia (APP1120356); National Council for Scientific Research of Argentina (CONICET, PIP 11220120100279CO).