A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family.

ABSTRACT:

Background

Acephalic spermatozoa syndrome is a rare type of teratozoospermia causing male infertility due to detachment of the sperm head and flagellum, which precludes fertilization potential. Although loss-of-function variations in several genes, including TSGA10, have been associated with acephalic spermatozoa syndrome, the genetic cause of many cases remains unclear.

Results

We recruited a Pakistani family with two infertile brothers who suffered from acephalic spermatozoa syndrome. Through whole-exome sequencing (WES) followed by Sanger sequencing, we identified a novel missense variant in TSGA10 (c.1112T > C, p. Leu371Pro), which recessively co-segregated with the acephalic spermatozoa syndrome within this family. Ultrastructural analyses of spermatozoa from the patien

SUBMITTER: Khan K 

PROVIDER: S-EPMC10840149 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature