A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans

A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans

The meiosis-specific LINC complex, composed of the KASH5 and SUN1 proteins, tethers the moving chromosomes to the nuclear envelope to facilitate homolog pairing and is essential for gametogenesis. Here, we applied whole-exome sequencing for a consanguineous family with five siblings suffering from r...

Full description

Bibliographic Details
Main Authors: Xiaoning Hou, Aurang Zeb, Sobia Dil, Jianteng Zhou, Huan Zhang, Baolu Shi, Zubair Muhammad, Ihsan Khan, Qamar Zaman, Wasim Akbar Shah, Xiaohua Jiang, Limin Wu, Hui Ma, Qinghua Shi
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Endocrinology
Subjects:
LINC complex
KASH5
meiotic arrest
diminished ovarian reserve (DOR)
non-obstructive azoospermia (NOA)
recurrent miscarriage (RM)
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1128362/full

Similar Items

Similar Items