Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families
| Autor: | Anna Mazzeo, Aldo Quattrone, Giuseppe Vita, Alessandra Patitucci, Carmelo Rodolico, Antonio Toscano, Corrado Messina, M. Muglia |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Adolescent DNA Mutational Analysis Neural Conduction Pedigree chart Biology Severity of Illness Index Young Adult Charcot-Marie-Tooth Disease Leucine medicine Serine Humans Genetic Predisposition to Disease Genetic Testing Peripheral Nerves Child Genetic testing Charcot-Marie-Tooth disease early-onset neuropathy late-onset neuropathy MPZ mutation Genetics Polymorphism Genetic medicine.diagnostic_test Myelin protein zero Haplotype General Medicine Middle Aged Charcot-Marie-Tooth Disease Type 1B Pedigree Phenotype Neurology Amino Acid Substitution Italy Genetic marker Mutation (genetic algorithm) Mutation Microsatellite Female Neurology (clinical) Myelin P0 Protein |
| Zdroj: | Acta neurologica Scandinavica 118 (2008): 328–332. info:cnr-pdr/source/autori:Mazzeo A, Muglia M, Rodolico C, Toscano A, Patitucci A, Quattrone A, Messina C, Vita G./titolo:Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families./doi:/rivista:Acta neurologica Scandinavica/anno:2008/pagina_da:328/pagina_a:332/intervallo_pagine:328–332/volume:118 |
| Popis: | Objectives – To describe clinical, electrophysiological and genetic data of five unrelated Sicilian pedigrees harbouring a heterozygous Ser78Leu mutation in the myelin protein zero (MPZ) extracellular domain. Materials and methods – Clinical, electrophysiological and genetic findings of 16 patients were reported. Polymorphic markers flanking the coding sequence of MPZ gene were also analysed. Results – A wide range of age at onset was observed in families 1 and 3, with a clinical heterogeneity, in terms of severity of the disease, within the same family (families 1 and 3), and among families. A markedly unsteady gait was a distinctive feature of many members of family 1. All patients in family 2 complained of severe cramps and painful paresthesia. Molecular genetic analysis showed that all affected subjects shared a common haplotype at three microsatellite loci D1S2858, D1S2624 and D1S484. Conclusions – Our study provides further evidence that phenotypic features of MPZ mutations can vary within and among different families. High frequency of Ser78Leu mutation in Sicily as well as the results of haplotype analyses suggest that the mutation may have been inherited from a common ancestor. |
| Databáze: | OpenAIRE |
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