Genetic Investigations of Septin12 Gene in Infertile Men With Acephalic Sperm Syndrome Publisher



Dortaj S¹ ; Gilani MAS^{2, 3} ; Sabbaghian M²
Source: Gene Reports Published:2025

Abstract

Acephalic sperm syndrome represents a rare form of teratozoospermia with significant implications for male fertility. It is characterized by sperm displaying headless flagella, heads lacking flagella, or abnormal head-to-flagella connections, all resulting from genetic factors. Among the genes implicated in this syndrome is SEPTIN12, crucial for the final differentiation of male germ cells, particularly expressed in the head, neck, and sperm annulus post-meiosis. In the present study, genetic variations within exons 5, 6, and 7 of the SEPTIN12 gene in patients with acephalic sperm syndrome were investigated, using DNA sequencing on 20 cases. Notably, a homozygous pathogenic single nucleotide variant, c.474G>A, in exon 5 of the SEPTIN12 gene was identified in an individual of Iranian descent affected by acephalic sperm syndrome. No variation was found in exons 6 and 7 of the SEPTIN12 gene in cases and controls. According to previous studies, this synonymous nucleotide change may lead to the production of a truncated protein, potentially contributing to the development of acephalic sperm syndrome. © 2025 Elsevier Inc.