Fig. 4

Methylation and RNA Expression of RILPL1 gene. A Methylation status across the expanded CGG repeat region in RILPL1 was determined using ONT data from five affected (III-37, III-39, III-40, III-42 and III-99) and three unaffected family members (II-8, III-41 and IV-21); no significant difference in methylation was detected between two groups. B Methylation status in Alu sequences along whole human genome, which are generally highly methylated in five RILPL1-affected individuals with OPDM, as positive controls. C RNA-seq analysis of RILPL1 RNA expression levels in patient III-42 and three age-matched controls; no significant different was detected