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2022•Clinical GeneticsRequires access

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

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

Open publisher page 5 citations

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.

About this research paper

What this paper is about

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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OpenAlex reports 5 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Method / approach

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Available 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.

Key concepts: Proband, Sanger sequencing, Genetics, Exome sequencing, Gene, Compound heterozygosity, Biology, Exome

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