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Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

Abstract：

INTRODUCTION:Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication of the peripheral myelin protein 22. CMT is otherwise caused by point mutations or small insertions/deletions in one of the 44 known CMT genes. METHODS AND RESULTS:Conventional sequencing of six CMT genes were followed by Multiplex Ligation-dependent Probe Amplification (MLPA), array Comparative Genomic Hybridization (aCGH) and breakpoint analysis in a large Norwegian CMT pedigree. Affected had an extra copy of the myelin protein zero (MPZ) gene. CONCLUSION:To our knowledge this is the first non-peripheral myelin protein 22 copy number variation to cause Charcot-Marie-Tooth disease.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Høyer H,Braathen GJ,Eek AK,Skjelbred CF,Russell MB

doi

10.1016/j.ejmg.2011.06.006

subject

Has Abstract

pub_date

2011-11-01 00:00:00

pages

e580-3

issue

6

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(11)00085-1

journal_volume

54

pub_type

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