<scp> <i>SCYL1</i> </scp> disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of <scp> <i>SCYL1</i> </scp>

SCYL1 disease results from biallelic pathogenic variants in SCYL1. We report two new patients with severe hepatic phenotype requiring liver transplantation. Patient charts reviewed. DNA samples and skin fibroblasts were utilized. Literature was 13-year-old boy 9-year-old girl siblings had acute insufficiency underwent living related donor transplantation infancy no genetic diagnosis. Both tremor, global developmental delay, cognitive dysfunction during their follow-up the medical clinic for diagnostic investigations after Exome sequencing identified a likely variant (c.399delC; p.Asn133Lysfs*136) Deletion/duplication analysis of deletions exons 7–8 1. confirmed 2 diagnosis both at age 13 9 years, respectively. protein not expressed patients' fibroblast using western blot analysis. Sixteen reported literature. Liver (n = 16), neurological 13) skeletal 11) present. required variable phenotypes. may miss phenotyping can help to diagnose patients.