Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families.

Xin Zhang,Yanzhao Guo,Lu Xu,Yilong Wang,Guoxia Sheng,Feng Gao,Zhefeng Yuan

Journal of human genetics（2023）

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摘要

We report the first case of ISs caused by GEMIN5 gene mutations. Our cases expand on GEMIN5 variants and neurological phenotypes, reinforcing the crucial impact of tetratricopeptide repeat-like domain variants in the GEMIN5 gene.

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关键词

Epilepsy,Genetic predisposition to disease,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy

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