A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease

A novel T→G mutation in exon 4 of the PMP22 gene was identified heterozygously in a girl with severe, de novo CMTIA disease. Duplication of the chromosomal 17p11–12 region, encompassing the PMP22 gene, was ruled out. This is the only known mutation that specifically affects the human fourth transmembrane (TM) domain of PMP22. It results in a substitution of… (More)