Gene analysis
After filtering the variants between the patients and a non-patient control (the 76-year-old asymptomatic brother of the patients), we identified a homozygous variant of the NT5E (5’-ectonucleotidase) gene, NM_002526: c.3G>C, (p.Met1?), in the patients (Table 1). The homozygous variant was not found in the Japanese genome variant database (HGVD; http://www.hgvd.genome.med.kyoto-u.ac.jp) or the in-house whole exome sequencing data. The variant was confirmed by Sanger sequencing. Both patients were genetically diagnosed with CALJA based on the NT5E mutation.