Journal article
Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders
MS Oud, BJ Houston, L Volozonoka, FK Mastrorosa, GS Holt, BKS Alobaidi, PF Devries, G Astuti, L Ramos, RI McLachlan, MK O'Bryan, JA Veltman, HE Chemes, H Sheth
Human Reproduction | OXFORD UNIV PRESS | Published : 2021
Open access
Abstract
STUDY QUESTION: What are the causative genetic variants in patients with male infertility due to severe sperm motility disorders? SUMMARY ANSWER: We identified high confidence disease-causing variants in multiple genes previously associated with severe sperm motility disorders in 10 out of 21 patients (48%) and variants in novel candidate genes in seven additional patients (33%). WHAT IS KNOWN ALREADY: Severe sperm motility disorders are a form of male infertility characterised by immotile sperm often in combination with a spectrum of structural abnormalities of the sperm flagellum that do not affect viability. Currently, depending on the clinical sub-categorisation, up to 50% of causality i..
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Grants
Awarded by Royal Society
Funding Acknowledgements
This project was supported in part by funding from the Australian National Health and Medical Research Council (APP1120356) to M.K.O.B., J.A.V. and R.I.M.L., The Netherlands Organisation for Scientific Research (918-15-667) to J.A.V, the Royal Society and Wolfson Foundation (WM160091) to J.A.V., as well as an Investigator Award in Science from the Wellcome Trust (209451) to J.A.V. and Grants from the National Research Council of Argentina (PIP 0900 and 4584) and Agency for the Promotion of Science and Technology (PICT 9591) to H.E.C. and a UUKi Rutherford Fund Fellowship awarded to B.J.H.