MUTATIONS IN THE MYELIN PROTEIN ZERO GENE ASSOCIATED WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

Charcot Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neu ropathy of the peripheral nerve. The majority of CMT 1 cases are due t o a duplication of an 1.5-Mb DNA fragment on chromosome 17p11.2 (CMT 1 a). Micromutations were found in the gene for peripheral myelin protei n 22 (PMP22) located in the duplicated region of CMT la, and in the pe ripheral myelin protein zero (PO) located on chromosome lq21-q23 (CMT 1b). We have characterized two new mutations in the PO gene in two fre nch families presenting CMT disease. Both mutations occur in the extra cellular domain of the PO protein. One mutation is a de novo mutation and is from paternal origin. (C) 1995 Wiley-Liss, Inc.