PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family

XING Jun-Wei; LIU Ya-Hong; Bilal Haider SHAMSI; LIU Xiao-Hong; TAN Lu; XU Man

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Chinese Journal of Contemporary Pediatrics ›› 2011, Vol. 13 ›› Issue (10) : 799-803.

CLINICAL RESEARCH

PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family

XING Jun-Wei, LIU Ya-Hong, Bilal Haider SHAMSI, LIU Xiao-Hong, TAN Lu, XU Man

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Abstract

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Key words

Charcot-Marie-Tooth disease / Genetics / PMP22 / Mutation / Infant

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XING Jun-Wei, LIU Ya-Hong, Bilal Haider SHAMSI, LIU Xiao-Hong, TAN Lu, XU Man. PMP22 mutation of an infant-onset Charcot-Marie-Tooth disease family[J]. Chinese Journal of Contemporary Pediatrics. 2011, 13(10): 799-803

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