THE 17P11.2 LOCUS IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSUREPALSIES, IN JUVENILE AND FAMILIAL CARPAL-TUNNEL SYNDROME AND IN HEREDITARY NEURALGIC AMYOTROPHY

The presence of deletions at the CMT-1a locus containing the gene enco ding the myelin protein, PMP-22 on chromosome 17p11.2 was assessed in patients with hereditary neuropathy with liability to pressure palsies (HNPP), with hereditary neuralgic amyotrophy and with hereditary carp al tunnel syndrome. Affected members in all families with HNPP, except in one, had a deletion, in one of them a partial one. None of the non -affected relatives, none of the members of the other three groups and none of the controls showed a deletion. These data confirm that the m ajority of patients with HNPP have a deletion at the PMP-22 gene locus . They do not suggest, however, that such a deletion accounts for a pr edisposition to the development of hereditary neuralgic amyotrophy or of carpal tunnel syndrome.