The first whole-exome sequencing published in familial ET found the p.Q290X mutation (rs387907274) in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS, FUS or FUS RNA protein, currently designated as ETM4, chromosome 16p11.2, MIM 137070, gene ID 2521; this gene encodes a protein which is component of a heterogeneous nuclear riboprotein, which is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm). The gene discussed is FUS; the disease is liposarcoma.