1A and 1B Myelin protein zero gene mutations research from Taiwan

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Abstract from J Neurol Sci. 2004 Apr 15;219(1-2):95-100. Links

Myelin protein zero gene mutations in Taiwanese patients with

Charcot-Marie-Tooth disease type 1.

Lee YC, Soong BW, Lin KP, Lee HY, Wu ZA, Kao KP.

The Neurological Institute, Taipei Veterans General Hospital, No. 201,

Sec. 2, Shih-Pai Road, Peitou District, Taipei 11217, Taiwan.

Background: Charcot-Marie-Tooth disease type 1 (CMT1) is the most common

inherited peripheral neuropathy and represents a genetically

heterogeneous condition. In addition to the peripheral myelin protein 22

gene (PMP22) duplication (CMT1A), myelin protein zero gene (MPZ)

mutations may account for a certain portion of CMT1 patients (CMT1B).

Objectives: The authors analyzed the MPZ mutations in Taiwanese patients

who do not have PMP22 duplication. Specifically, their clinical and

molecular features were characterized.

Materials and methods: Twenty-four of 57 unrelated Taiwanese patients

with CMT1 were selected after excluding the CMT1A duplication.

Subsequent analysis of the coding regions of the MPZ gene was performed

with single-strand-conformation polymorphism (SSCP), which was then

followed by nucleotide sequencing.

Results: Four missense mutations and one 4-base pair (bp) deletion,

respectively, were identified in five patients, of which one mutation,

c.173 T>A, has never been previously reported. Three missense mutations

were located in exon 2, the other one in exon 3, and the deletion in

exon 6.

Conclusions: This study expands the number of CMT1 associated MPZ

mutation and suggests that analysis of the coding sequence of MPZ should

be performed in all CMT patients without CMT1A duplication to clarify

their disease nature.