Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.

Guillaume MartinezJulie BeuroisDenis DacheuxCaroline CazinMarie BidartZine-Eddine KherrafDerrick R RobinsonVéronique SatreGerald Le GacChandran KaIsabelle GourlaouenYann FichouGraciane PetreEmmanuel DulioustRaoudha ZouariNicolas Thierry-MiegAminata TouréChristophe ArnoultMélanie BonhiversPierre RayCharles Coutton

Published in: Journal of medical genetics (2020)

We showed that CFAP91 is essential for normal sperm flagellum structure and function in human and Trypanosoma and that biallelic variants in this gene lead to severe flagellum malformations resulting in astheno-teratozoospermia and primary male infertility.

Keyphrases

copy number
intellectual disability
early onset
endothelial cells
polycystic ovary syndrome
induced pluripotent stem cells
gene expression
pluripotent stem cells
dna methylation
protein protein
skeletal muscle
binding protein
amino acid
genome wide identification