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

Yunting Lin,Wen Zhang,Duan Li,Xiaodan Chen,Zhikun Lu,Xiaojing Li,Xiuzhen Li

CLINICAL GENETICS（2022）

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摘要

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.

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