Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
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).


OBJECTIVE
The authors analyzed the MPZ mutations in Taiwanese patients who do not have PMP22 duplication. Specifically, their clinical and molecular features were characterized.


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.
Lee
Yi-Chung
YC
The Neurological Institute, Taipei Veterans General Hospital, No. 201, Sec. 2, Shih-Pai Road, Peitou District, Taipei 11217, Taiwan.
Soong
Bing-Wen
BW
Lin
Kon-Ping
KP
Lee
Hsiang-Ying
HY
Wu
Zin-An
ZA
Kao
Ker-Pei
KP
D000328:Adult; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000473:pathology; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D013497:Sural Nerve / Q000473:pathology; D013624:Taiwan
D018993:Myelin P0 Protein