Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype.

Jiaxin HeQiang LiuWeili WangLilan SuLanlan MengChen TanHuan ZhangQianjun ZhangGuangxiu LuJuan DuGe LinChaofeng Tu Yue-Qiu Tan

Published in: Clinical genetics (2023)

(A) Characteristics of spermatozoa in asthenoteratozoospermia affected man. (B) Pedigree and Sanger sequencing analysis of the family. (C) The effect of the missense variant in the CCIN gene.

Keyphrases

intellectual disability
single cell
copy number
genome wide
optic nerve
polycystic ovary syndrome
dna methylation
type diabetes
adipose tissue
metabolic syndrome
skeletal muscle
genome wide identification