Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation,Neurology Genetics

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Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation
Neurology Genetics ( IF 3.1 ) Pub Date : 2020-10-01 , DOI: 10.1212/nxg.0000000000000503
Kang-Yang Jih , Pei-Chien Tsai , Yu-Shuen Tsai , Yi-Chu Liao , Yi-Chung Lee

Recently, DNAJC7 was found to be associated with amyotrophic lateral sclerosis (ALS) in a single large-scale exome sequencing study.¹ Multiple protein-truncating variants were detected in individuals with ALS that were absent in control subjects.¹ DNAJC7 encodes a member of the DnaJ heat-shock protein family (HspP40), which functions in protein homeostasis, including protein folding and degradation.² To validate the pathogenic role of DNAJC7 in ALS and further understand the relevant clinical features, we screened a Taiwanese ALS cohort for DNAJC7 mutations.

更新日期：2020-08-06

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