Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects.

ABSTRACT:

Background

Acephalic spermatozoa (AS) is a serious but rare reproductive genetic disorder that causes infertility in men. To date, only a few genes associated with AS defects have been identified, including the polyamine modulated factor 1 binding protein 1 (PMFBP1) gene. Consistent with this, PMFBP1 localizes to the head-neck connection, which bridges the implantation fossa and basal body.

Methods

A male patient was diagnosed as having an AS defect. Blood samples from all family members and a sample of the patient's semen were collected to determine the genetic causes of his infertility.

Results

Compound heterozygote mutation in the PMFBP1 gene, which is associated with AS defects in the present case: two loss-of-function mutations, with one a nonsense mutation c.361

SUBMITTER: Nie H 

PROVIDER: S-EPMC9482405 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature