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Article

Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7.

Gene - 30 Apr 2023

Wang Chun, Ge Yusong, Li Runjie, He Guiyuan, Lin Yongzhong

Abstract excerpt

BACKGROUND: Pontocerebellar hypoplasia type 7(PCH7)is a neurodegenerative disease related to autosomal recessive variants in the target of EGR1 (TOE1)gene. Biallelic mutation in the TOE1 gene causes global developmental delay, cognitive and psychomotor impairment, hypotonia, breathing abnormalities, and gonadal abnormalities. This study examined the clinical and genetic features of a 2-year-old patient carrying...

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Identifiers

PMID: 36738896
DOI: 10.1016/j.gene.2023.147250

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