Novel mutation in ODF2 causes multiple morphological abnormalities of the sperm flagella in an infertile male.

ABSTRACT: Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella (MMAF), which cause severe asthenozoospermia and lead to male infertility, while the causes of approximately 50% of MMAF cases remain unclear. To reveal the genetic causes of MMAF in an infertile patient, whole-exome sequencing was performed to screen for pathogenic genes, and electron microscope was used to reveal the sperm flagellar ultrastructure. A novel heterozygous missense mutation in the outer dense fiber protein 2 (ODF2) gene was detected, which was inherited from the patient's mother and predicted to be potentially damaging. Transmission electron microscopy revealed that the outer dense fibers were defective in the patient's sperm tail, which was similar to that of the reported het

SUBMITTER: Zhu ZJ 

PROVIDER: S-EPMC9491046 | biostudies-literature | 2022 Sep-Oct

REPOSITORIES: biostudies-literature