Identification of a homozygous GFPT2 variant in a family with asthenozoospermia

Masomeh Askari (1) , Dor Mohammad Kordi-Tamandani (1) , Navid Almadani (2, 3) , Ken Mcelreavey (4) , Mehdi Totonchi (2, 3)

1 University of Sistan and Baluchestan [Iran]
2 Royan Institute for Reproductive Biomedicine [Tehran, Iran]
3 ACECR - Academic Center for Education, Culture and Research
4 Génétique du Développement humain - Human developmental genetics

Asthenozoospermia (ASZ) is a condition characterized by reduced sperm motility in semen affecting approximately 19% of infertile men. Major risk factors, particularly gene mutations, still remain unknown. The main aim of the present study was to identify novel genes and mutations that may influence human sperm motility.

Keywords: Asthenozoospermia; GFPT2; Reactive oxygen species; Whole-exome sequencing

Domains: Life Sciences [q-bio]; Reproductive Biology

Masomeh Askari, Dor Mohammad Kordi-Tamandani, Navid Almadani, Ken Mcelreavey, Mehdi Totonchi. Identification of a homozygous GFPT2 variant in a family with asthenozoospermia. Gene, 2019, 699, pp.16-23. ⟨10.1016/j.gene.2019.02.060⟩. ⟨pasteur-03521835⟩