CONNEXIN32 GENE-MUTATIONS IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE (CMTX1)

Single-strand conformational polymorphisms (SSCP) of the connexin32 ge ne were analyzed in 121 patients possibly affected by Charcot-Marie-To oth (CMT) disease. The 121 patients were selected from 443 possible CM T/HNPP (hereditary neuropathy with liability to pressure palsies) pati ents based on genetic linkage to Xq13.1, absence of the 17p12 duplicat ion and deletion, and absence of point mutations in PMP22 and P0. We f ound five new mutations at nucleotides 105 (C-T), 316 (C-G), 321 (C-T) , 328 (T-C), and 657 (G-C), and three mutations at nucleotide 126 (C-T ), 249 (G-A), and 477 (G-A) previously described in other unrelated fa milies. The nucleotide changes resulted in seven amino-acid substituti ons and one premature stop codon.