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October 2020; 6 (5) Clinical/Scientific NotesOpen Access

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

Kang-Yang Jih, Pei-Chien Tsai, Yu-Shuen Tsai, Yi-Chu Liao, Yi-Chung Lee
First published August 6, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000503
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    Figure The DNAJC7 mutation and pedigree of the patient with ALS

    (A) Sanger sequence traces of the DNAJC7 c.401_402delAA (p.Q134Rfs*6) mutation identified in the ALS patient in this study. The heterozygous frameshift mutations are clearly demonstrated by sequencing the TA-subcloned PCR fragments. (B) The pedigree structure of the ALS patient with the DNAJC7 mutation. Open symbol: unaffected; filled symbol: affected; symbol with diagonal line: deceased subjects; square: male; circle: female; arrow: the proband. ALS = amyotrophic lateral sclerosis.

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