A novel homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans.
Shengjia ShiXiangrong TangShunhua LongJie YangTianwei WangHongmei WangTingwenyi HuJuanzi ShiGuoning HuangSen QiaoTingting LinPublished in: Andrology (2024)
This study highlights the identification of a novel homozygous LRRC6 mutation in a consanguineous family and its impact on sperm progressive motility, morphology, and sperm kinetics parameters, which could facilitate the genetic diagnosis of asthenozoospermia and offer valuable perspectives for future genetic counseling endeavors.