Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.

ABSTRACT:

Background

Asthenoteratospermia, one of the most common causes for male infertility, often presents with defective sperm heads and/or flagella. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the common clinical manifestations of asthenoteratospermia. Variants in several genes including DNAH1, CEP135, CATSPER2 and SUN5 are involved in the genetic pathogenesis of asthenoteratospermia. However, more than half of the asthenoteratospermia cases cannot be explained by the known pathogenic genes.

Methods and results

Two asthenoteratospermia-affected men with severe MMAF (absent flagella in >90% spermatozoa) from consanguineous families were subjected to whole-exome sequencing. The first proband had a homozygous missense mutat

SUBMITTER: Lv M 

PROVIDER: S-EPMC7361034 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature