Mutation frequency for CMT Type 1 in Chinese similiar to global ethnic patients

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Genet Med. 2006 Aug;8(8):532-535.

Mutation frequency for Charcot-Marie-Tooth disease type 1 in the

Chinese population is similar to that in the global ethnic patients.

Song S, Zhang Y, Chen B, Zhang Y, Wang M, Wang Y, Yan M, Zou J, Huang

Y, Zhong N.

From the 1Peking University Center of Medical Genetics, Beijing,

China; 2The Xuanwu Hospital, Beijing, China; 3The Third Hospital of

Peking University, Beijing, China; 4The Department of Medical

Genetics, Peking University Health Science Center, Beijing, China;

5The Department of Human Genetics, New York State Institute for Basic

Research, Staten Island, New York.

PURPOSE:: To investigate the genetic loci/mutations among the Chinese

Charcot-Marie-Tooth disease type 1 (CMT1), which accounts for

approximately 70% of Charcot-Marie-Tooth; and to study the genetic

heterogeneity and mutation frequency.

METHODS:: CMT1A duplication and mutations at loci of MPZ, Cx32/GJB1,

EGR2, and LITAF/SIMPLE were analyzed among 32 clinically diagnosed

CMT1 patients of Chinese ancestry. RESULTS:: The CMT1A duplication

was detected in 62.5% (20/32) CMT1 patients. This duplication

accounts for the major mutation for Chinese CMT1. Among 12 cases that

have no CMT1A duplication detected, three point mutations including

one (3.1%) in MPZ and two (6.3%) in Cx32 were identified. No mutation

was detected in genes PMP22, EGR2 and LITAF among the remaining nine

(28.1%) CMT1 patients.

CONCLUSION:: The mutation frequency for the Chinese CMT1 is similar

to that seen in the global ethnic population. Molecular testing of

the CMT1A duplication, along with the loci of MPZ and Cx32, may

detect the majority of Chinese CMT1 patients.