Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene - PubMed (original) (raw)
. 1998 May;50(5):1397-401.
doi: 10.1212/wnl.50.5.1397.
Affiliations
- PMID: 9595994
- DOI: 10.1212/wnl.50.5.1397
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
M G Marrosu et al. Neurology. 1998 May.
Abstract
Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy (HMSN), is a clinically and genetically heterogeneous condition. Mutations of the myelin protein zero (MPZ) gene have been associated with CMT1B, Dejerine-Sottas disease, and congenital hypomyelination, which are inherited demyelinating neuropathies characterized by different clinical severity. HMSN type II (HMSN II) or CMT2, the axonal form of CMT, is genetically heterogeneous. Linkage to 1p35-p36 (CMT2A), 3q (CMT2B), and 7p (CMT2D) chromosomes has been reported in the disease; however, most HMSN II families do not link to any of the reported loci. In a large HMSN II Sardinian family, we found a missense mutation in the chromosome 1q MPZ gene. This Ser44Phe mutation was located in exon 2 and was present in the heterozygous state in all affected individuals. This is the first example of an HMSN II family showing an MPZ point mutation. The MPZ gene Ser44Phe mutation found in the HMSN II family presented in this study suggests that genetic analysis of HMSN II families should also include the MPZ gene, previously not considered to be involved in the axonal form of HMSN.
Comment in
- Charcot-Marie-Tooth disease type 2 and P0 gene mutations.
Pareyson D, Sghirlanzoni A, Bolti S, Ciano C, Fallica E, Mora M, Taroni F. Pareyson D, et al. Neurology. 1999 Mar 23;52(5):1110-1. doi: 10.1212/wnl.52.5.1106-f. Neurology. 1999. PMID: 10102454 No abstract available.
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