PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family / 中国当代儿科杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the mutation of PMP22 gene of an early-onset family with Charcot-Marie-Tooth disease (CMT) and the genetic features of the disease.</p><p><b>METHODS</b>Two 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSIONS</b>The gene causing CMT in the family is found in the 17p11.2-p12 region containing PMP22 gene duplication mutation, resulting in the subtype CMT1A.</p>