The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.

Yunting LinWen ZhangDuan LiXiaodan ChenZhikun LuXiaojing LiXiuzhen Li

Published in: Clinical genetics (2022)

A. The family pedigree. B. Whole exome sequencing of the proband-parent trio revealed c.611_612dupTG(p.M205*) variant of FITM2 gene as suspicious variant. C. Sanger sequencing confirmed that c.611_612dupTG(p.M205*) variant of FITM2 gene was homozygous in the proband, while the unaffected parents were heterozygous.

Keyphrases

genome wide
copy number
single cell
early onset
genome wide identification
dna methylation
transcription factor
fine needle aspiration
genome wide analysis
ultrasound guided