OBJECTIVETo study the mutation of PMP22 gene of an early-onset family with Charcot-Marie-Tooth disease (CMT) and the genetic features of the disease.

METHODSTwo patients with CMT, fifteen unaffected members in the family and 20 healthy controls were enrolled. STR-PCR and gene scanning were used to detect PMP22 duplication mutation.

RESULTSThe mutations of PMP22 were found in the two patients and other five unaffected members in the family. The mutations were located in the STR locus D17S921 in 5 cases and in the STR locus D17S4A in 2 cases. The other members in the family and 20 healthy controls did not show the mutations of PMP22.

CONCLUSIONSThe gene causing CMT in the family is found in the 17p11.2-p12 region containing PMP22 gene duplication mutation, resulting in the subtype CMT1A.

Charcot-Marie-Tooth Disease ; genetics ; Child ; Child, Preschool ; Chromosomes, Human, Pair 17 ; Female ; Humans ; Male ; Mutation ; Myelin Proteins ; genetics