Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery-Dreifuss muscular dystrophy.

Yanshu XieJingsi LuoJingzi ZhongXu LiuJing TangDan Lan

Published in: Molecular genetics & genomic medicine (2023)

We described a case of EDMD2 caused by maternal gonosomal mosaicism which was confirmed by using ultra-deep sequencing and ddPCR. This study illustrates the importance of a systematic and comprehensive screening of parental mosaicism with more sensitive approaches and the use of multiple tissue samples.

Keyphrases

muscular dystrophy
single cell
duchenne muscular dystrophy
high resolution
real time pcr
high throughput
pregnant women
pregnancy outcomes
weight loss
physical activity
quantum dots