Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement

Introduction This database includes the VCFs linked with the paper “Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement”. In this study, we reported the identification of biallelic non-coding variants in RNU4ATAC in three unrelated individuals with a clinical diagnosis of Joubert syndrome (JS), who had remained negative after exome sequencing (ES). Our aim was to investigate the contribution of RNU4ATAC to the JS mutational spectrum and to highlight the relevance of re-analyzing non-coding regions in unsolved cases of JS. Methods ES was performed on DNA from JS patients using standard clinical pipelines. In cases without a definitive molecular diagnosis, we reanalyzed ES for the RNU4ATAC locus, within intron 2 of CLASP1, through direct BAM files inspection. Results (in brief) We identified compound heterozygous RNU4ATAC variants in three individuals from unrelated families. All patients displayed hallmark JS features (including the molar tooth sign) and additional skeletal manifestations. The uploaded VCF files belong to each of these three individuals, supporting the findings discussed in the manuscript.