Germline transmission of LNKE208Q variant in a family with myeloproliferative neoplasms

With the aim to discover new mutations associated with familial forms of myeloproliferative neoplasms (MPN) , we performed amplicon target resequencing, using the Ion Torrent PGM platform, in a total of 26 members from five families with at least two members affected by MPN. We employed a panel of 23 myeloid neoplasms-associated genes, including the entire coding DNA sequence (CDS) of JAK2, EZH2, SOCS1, SOCS2, SOCS3, STAT1, STAT3, STAT5, TET2, NRAS, KRAS and specific coding regions of JAK1 (exons 14,20-22), JAK3 (exons 12, 14,17-19), ASXL1 (exon 12), IDH1 (exon 4), IDH2 (exon 4), LNK (exons 2-4), CBL (exons 8,9), NFE2 (exon 3), DNMT3A (exons 18-23), SF3B1 (exons 13-16), U2AF1 (exons 2,6,8), and hot spot for SRSF2 (codon P95).