Fig. 1

Genetic testing results. a Pedigree of the family showing the two affected patients (II.2 and II.3). Another sibling (II.4) is a carrier as well as both parents (I.1 and I.2). b AutoSNPa analysis shows runs of homozygosity (ROH) [shown as black blocks] between healthy individuals versus affected individuals in the family. Here, chromosome 3 is displayed (as RUBCN is located at the end of q arm). The numbers on the left are the genomic coordinates on the chromosome 3. c The ROH block containing RUBCN was taken into consideration during the whole exome sequencing (WES) filtering. Based on that, a homozygous variant, a single base deletion of cytosine in 2624th position, (NM_014687:exon18:c.2624delC:p.A875fs) indicated by a red arrow (also shown as in a red box) was detected in RUBCN (1c, arrow). d The image displays schematic drawing of the exons of the gene and encoded protein domains (arrow). The star shows the position of the variant