A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms

M Zubair, R Khan, A Ma, U Hameed… - Asian Journal of …, 2022 - journals.lww.com
Asthenoteratozoospermia is one of the most severe types of qualitative sperm defects. Most
cases are due to mutations in genes encoding the components of sperm flagella, which
have an ultrastructure similar to that of motile cilia. Coiled-coil domain containing 103
(CCDC103) is an outer dynein arm assembly factor, and pathogenic variants of CCDC103
cause primary ciliary dyskinesia (PCD). However, whether CCDC103 pathogenic variants
cause severe asthenoteratozoospermia has yet to be determined. Whole-exome …