Genetics of male infertility
Research type
Research Study
Full title
De novo mutations affecting male infertility
IRAS ID
226749
Contact name
Joris A Veltman
Contact email
Sponsor organisation
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Duration of Study in the UK
4 years, 11 months, 28 days
Research summary
In approximately half of infertile couples, the cause of the problem is due to a male factor. In more than half of these cases, the aetiology remains undetermined (idiopathic infertility), with no clear cause for the poor sperm quality and/or absence of sperm production. In less than 10% of cases, a genetic origin can be found based on structural or numerical genetic problems such as azoospermia factor (AZF) deletions on the Y-chromosome. Based on the results from twin studies, genetic factors are known to play a major role in male infertility but at the same time we know that this infertility cannot be inherited (except for very rare recessive or polygenic inheritance). This apparent discrepancy of non-heritable genetics can be explained by new, de novo, mutations arising in the germline of the patient. In order to detect these mutations which can occur throughout the genome, we need to study the DNA of infertile men and compare it to the DNA of their parents. This approach has been pioneered very successfully by the lead applicant in Nijmegen, The Netherlands, for intellectual disability and we now want to expand this to severe forms of early-onset male infertility and in this way we expect to identify novel genetic causes of male infertility.
REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
18/NE/0089
Date of REC Opinion
16 Apr 2018
REC opinion
Further Information Favourable Opinion