CMT Type 1B Research Update

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Abstract from Eur J Paediatr Neurol. 2004;8(4):221-4. Related Articles,

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Early onset Charcot-Marie-Tooth type 1B disease caused by a novel

Leu190fs mutation in the myelin protein zero gene.

Kochanski A, Kabzinska D, Drac H, Ryniewicz B, Rowinska-Marcinska K,

Hausmanowa-Petrusewicz I.

Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences,

Pawinskiego 5, 02-106 Warsaw, Poland.

The spectrum of Charcot-Marie-Tooth (CMT) phenotypes segregating with

mutations in the Myelin Protein Zero (MPZ) gene is wide and ranges from

congenital hypomyelinating neuropathy (CHN) through demyelinating form

of CMT to the axonal type of CMT disease. Within 94 MPZ gene mutations

reported up to now, only a few were identified in the exon 4 of the MPZ

gene. In this study we have identified a novel Leu190fs mutation in the

MPZ gene. The Leu190fs mutation was found in a 14-year-old girl

suffering from Charcot-Marie-Tooth type 1 disease (CMT1) with onset in

early infancy. Similarly to the other MPZ gene frame-shift mutations

reported as far the Leu190fs seems to have a dominant negative effect.