Lili Gao and colleagues present a whole-exome sequencing analysis to search the potential “second-hit” mechanism that underlies the onset of Familial hemophagocytic lymphohistiocytosis type 2(FHL2). They have found a novel type of compound heterozygous mutation in PRF1 and a homozygous germline mutation in PCDH18. Their findings strongly argue that the presence of a “second” germline mutation besides the PRF1 gene might be potentially an important mechanism for triggering the onset of FHL2.
Gao, Lili et al. Translational Research.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway