Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)

摘要

Genetic testing results. 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). 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 is located at the end of q arm). The numbers on the left are the genomic coordinates on the chromosome 3. The ROH block containing 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, ( :exon18:c.2624delC:p.A875fs) indicated by a red arrow (also shown as in a red box) was detected in (1c, arrow). The image displays schematic drawing of the exons of the gene and encoded protein domains (arrow). The star shows the position of the variant