“…The present study defines clinical and molecular characteristics of 22 affected patients with familial central DI from 13 different Italian families. Eight of the identified mutations were known to be associated with adNDI of the AVP-NPII gene and have previously been reported by others (8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,34,35,36,37,38,39), while two novel mutations are here described for the first time. Genetic analyses revealed that all affected members were heterozygous for the mutations as expected from autosomal dominant mode of inheritance.…”