Pedigree Study and Functional Analysis of Novel Germline p. R21Afs MEN1 Mutation in a Multiple Endocrine Neoplasia Type 1 Family

We found a novel MEN1 p. R21Afs mutaion in a multiple endocrine neoplasia type 1 family. To investigate the pathogenic function of p.R21Afs MEN1 mutation, the leukocyte transcriptoma profilings derived from MEN1 patients with heterozygote p.R21Afs MEN1 mutation was compared with the unaffected relatives without p.R21Afs MEN1 mutation. 3 blood samples from unaffected relatives without p.R21Afs MEN1 mutation, 3 blood samples from MEN1 patients with heterozygote p. R21Afs MEN1 mutation. Comparative transcriptoma profiling analysis of RNA-seq data for leukocyte was performed between MEN1 patients and unaffected relatives..