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A 10-year-old boy was identified with a point mutation in PMP22,which resulted in the substitution of cysteine for serine in a putative transmembrane domain of PMP22.Analysis of family members revealed that the PMP22 point mutation arose spontaneously and segregated with the CMT type 1 phenotype in an autosomal dominant pattern.The patients with the PMP22 point mutation had clinical and electrophysiologic phenotypes that were similar to those of patients with the 1.5-Mb duplication.The PMP22 gene has a causative role in CMT type 1.Either a point mutation in PMP22 or a duplication of the region including the PMP22 gene can result in the disease phenotype. |
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