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

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 mutations in known globozoospermia genes DPY19L2 and SPATA16, exome sequenc

SUBMITTER: Oud MS 

PROVIDER: S-EPMC6993856 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature