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.
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Gao, Lili et al. Translational Research.
"I recommend Alamut to all of my colleagues and friends in genomics!"
EDGARDO R. PARRILLA, MD
Duke University, Durham, USA