首例 Siddiqi 综合征的中国病例由同源 FITM2 变异引起。
The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.
机构信息
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
出版信息
Clin Genet. 2022 Sep;102(3):246-247. doi: 10.1111/cge.14178. Epub 2022 Jun 26.
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.
A. 家系谱。B. 先证者-父母三人间的全外显子组测序显示 FITM2 基因的 c.611_612dupTG(p.M205*) 变异为可疑变异。C. Sanger 测序证实，先证者的 FITM2 基因 c.611_612dupTG(p.M205*) 变异为纯合子，而未受影响的父母为杂合子。
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