Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.

ABSTRACT:

Background

Multiple morphological abnormalities of the sperm flagella (MMAF), which is characterized as asthenoteratospermia involving absent, short, bent, coiled, and/or irregular-caliber flagella, is a rare recessive inherited disorder associated with male infertility. To date, genetic causes of MMAF cases are not fully explored.

Methods

Whole-exome sequencing was conducted to identify pathogenic variants in a patient with MMAF. The functional effect of the identified mutations was investigated by immunofluorescence staining and western blotting. Intracytoplasmic sperm injection was used to assist fertilization for the patient with MMAF.

Results

We identified novel biallelic mutations, a splicing variant NC_000004.12:g.146937593C>T (c.254+1G>A), and a nonsense mutat

SUBMITTER: Dai S 

PROVIDER: S-EPMC9747556 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature