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

doi:10.1111/cge.14178

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

Clin Genet. 2022 Sep;102(3):246-247. doi: 10.1111/cge.14178. Epub 2022 Jun 26.

Authors

Yunting Lin¹, Wen Zhang¹, Duan Li¹, Xiaodan Chen¹, Zhikun Lu¹, Xiaojing Li², Xiuzhen Li¹

Affiliations

¹ Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
² Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

PMID: 35754111
DOI: 10.1111/cge.14178

Abstract

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.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

China
Exome Sequencing
Heterozygote
Homozygote*
Humans
Mutation
Pedigree