Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.

Ying WangChaofeng TuHongchuan NieLanlan MengDongyan LiWeili WangHuan ZhangGuangxiu LuGe LinYue-Qiu TanJuan Du

Published in: Journal of assisted reproduction and genetics (2020)

We identified novel DNAAF6 variants causing male infertility and PCD in Han Chinese patients. This finding extended the spectrum of variants in DNAAF6 and revealed new light on the impact of DNAAF6 variants in sperm flagella.

Keyphrases

copy number
end stage renal disease
chronic kidney disease
ejection fraction
newly diagnosed
polycystic ovary syndrome
prognostic factors
peritoneal dialysis
dna methylation
genome wide
skeletal muscle
patient reported