MUTATION ANALYSIS OF THE NERVE SPECIFIC PROMOTER OF THE PERIPHERAL MYELIN PROTEIN-22 GENE IN CMT1 DISEASE AND HNPP

We analysed the nerve specific promoter of the peripheral myelin prote in 22 gene (PMP22) in a set of 15 unrelated patients with Charcot-Mari e-Tooth type I disease (CMT1) and 16 unrelated patients with hereditar y neuropathy with liability to pressure palsies (HNPP), In these patie nts no duplication/deletion nor a mutation in the coding region of the CMT1/HNPP genes was detected. In one autosomal dominant GMT1 patient, we identified a base change in the noncoding exon IA of PMP22 which, however, did not cosegregate with the disease in the family. This stud y indicates that mutations in the nerve specific PMP22 promoter and 5' untranslated exon will not be a common genetic cause of CMT1A and HNP P.