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

genome wide
single cell
intellectual disability
copy number
polycystic ovary syndrome
type diabetes
gene expression
metabolic syndrome
autism spectrum disorder
insulin resistance
genome wide analysis