Visualizations were produced using the PacBio TRGT tool and pedigrees for the families with pathogenic STR expansions. In siblings P0016368 and P0018504, a heterozygous GGCCTG expansion in NOP56 was detected (A). In another family, an expansion including the motifs GGCCTG and CGCCTG in NOP56 was detected in one generation (P0018996), and the STR expansion was subsequently also identified in the mother (B). In patient P0016356 and their father, we identified heterozygous STR expansion DAB1, including both ATTTT and ATTTC motifs (C). In another patient, we identified homozygous STR expansions in RFC1 (D). Alleles are denoted by “A1” and “A2.” Sequenced individuals are marked with an asterisk (*) in the pedigrees. (AD-ATX) Autosomal dominant ataxia.
