01770nas a2200229   4500008004100000022001400041245007700055210006900132260001500201300001000216490000700226520109900233100001501332700002301347700001201370700002501382700001701407700001501424700001301439700001601452856007201468       2014                        eng d  a1873-236400aA novel locus for a hereditary recurrent neuropathy on chromosome 21q21.0 anovel locus for a hereditary recurrent neuropathy on chromosome   c2014 May 9  a660-50 v243 aHereditary recurrent neuropathies are uncommon. Disorders with a known molecular basis falling within this group include hereditary neuropathy with liability to pressure palsies (HNPP) due to the deletion of the PMP22 gene or to mutations in this same gene, and hereditary neuralgic amyotrophy (HNA) caused by mutations in the SEPT9 gene. We report a three-generation family presenting a hereditary recurrent neuropathy without pathological changes in either PMP22 or SEPT9 genes. We performed a genome-wide mapping, which yielded a locus of 12.4Mb on chromosome 21q21. The constructed haplotype fully segregated with the disease and we found significant evidence of linkage. After mutational screening of genes located within this locus, encoding for proteins and microRNAs, as well as analysis of large deletions/insertions, we identified 71 benign polymorphisms. Our findings suggest a novel genetic locus for a recurrent hereditary neuropathy of which the molecular defect remains elusive. Our results further underscore the clinical and genetic heterogeneity of this group of neuropathies.1 aCalpena, E1 aMartínez-Rubio, D1 aArpa, J1 aGarcía-Peñas, J, J1 aMontaner, D.1 aDopazo, J.1 aPalau, F1 aEspinós, C  uhttp://www.sciencedirect.com/science/article/pii/S0960896614001060#