Fig. 3

Identification and validation of the CGG repeat expansion in RILPL1. A Genomic position of the CGG repeat expansion in RILPL1. B Estimated repeat counts of the CGG expansion were more than 100 in five patients (III-37, III-39, III-40, III-42 and III-99) and only 30 in three healthy family members (II-8, III-41 and IV-21), as analyzed by long-read whole-genome ONT sequencing platform. C Representative results of RP-PCR analysis showing CGG repeat expansions of affected individuals while not in unaffected family members. D Representative results of AL-PCR analysis showing the numbers of expanded CGG repeats of OPDM individuals in family were ranging from 120 to 177. While in unaffected individuals, 9 units of CGG repeat were detected