A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2

The distal hereditary motor neuropathy (dHMN) is a rare genetically and clinically heterogeneous disorder characterized by weakness and wasting of distal limb muscles in absence of overt sensory abnormalities. Recently, pyramidal signs have been also described in some patients with dominant or reces...

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Bibliographic Details
Published in:Clinical genetics 2008-05, Vol.73 (5), p.486-491
Main Authors: Muglia, M, Magariello, A, Citrigno, L, Passamonti, L, Sprovieri, T, Conforti, FL, Mazzei, R, Patitucci, A, Gabriele, AL, Ungaro, C, Bellesi, M, Quattrone, A
Format: Article
Language:English
Subjects:
Biological and medical sciences
candidate genes
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 4 - genetics
Classical genetics, quantitative genetics, hybrids
distal motor neuropathy
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetic disorders
Genetic Heterogeneity
Genetic Linkage
Genetic markers
Genetics of eukaryotes. Biological and molecular evolution
Hereditary Sensory and Motor Neuropathy - genetics
Hereditary Sensory and Motor Neuropathy - physiopathology
Human
Humans
linkage analysis
Male
Medical genetics
Medical sciences
Molecular and cellular biology
Muscular system
Mutation
Neurosciences
Pedigree
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Summary:The distal hereditary motor neuropathy (dHMN) is a rare genetically and clinically heterogeneous disorder characterized by weakness and wasting of distal limb muscles in absence of overt sensory abnormalities. Recently, pyramidal signs have been also described in some patients with dominant or recessive dHMN, and two different loci have been identified in families affected by dHMN complicated with pyramidal dysfunction. We investigated an Italian family affected by an autosomal dominant dHMN complicated by pyramidal signs in order to map a new gene locus. The disease maps to a novel locus in a 26‐cM region flanked by D4S1552 and D4S2930 on chromosome 4q34.3‐35.2. Three candidate genes (SNX25, CASP3 and TUBB4Q) located in the critical region were screened for the presence of mutations by heteroduplex analysis. No mutations have been detected in the analyzed genes. In conclusion, the new private genetic locus we reported further confirms the wide heterogeneity of dHMN.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2008.00969.x