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Publication: Yamashita et al., 2025 - Biallelic variants in DNAJC7 cause familial amyotrophic lateral sclerosis with the TDP-43 pathology
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Fig. 1

Identification of homozygous DNAJC7 variants in three patients with ALS. a The pedigree chart of a family with three ALS patients. The proband is indicated by an arrow. b Brain T1-weighted magnetic resonance images of the proband (IV-5), with red arrows showing characteristic atrophy of the bilateral frontal lobes. Scale bar: 50 mm. c Brain computed tomography images of the proband’s older sister (IV-4), with red arrows indicating atrophy of the bilateral frontal lobes. Scale bar: 50 mm. d Parametric multipoint LOD scores showing significant peaks on chromosomes 5 and 17, suggesting a genetic linkage. e Chromatograms confirming the homozygous c.518dupC variant in DNAJC7 in all three affected individuals. f Schematic representation of the DNAJC7 protein, with the ALS-associated variant located within the tetratricopeptide repeat domain. ALS, amyotrophic lateral sclerosis; LOD, logarithm of odds

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