Document Detail


A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.
MedLine Citation:
PMID:  10441578     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders that affect the peripheral nervous system. Three loci are known for the autosomal dominant forms of axonal CMT (CMT2), but none have yet been identified for autosomal recessive axonal CMT (ARCMT2). We have studied a large consanguineous Moroccan ARCMT2 family with nine affected sibs. The onset of CMT was in the 2d decade in all affected individuals who presented with a severe motor and sensory neuropathy, with proximal muscle involvement occurring in some patients. After exclusion of known loci for CMT2 and for demyelinating ARCMT2, a genomewide search was performed. Evidence for linkage was found with markers on chromosome 1q. The maximum pairwise LOD score was above the threshold value of 3.00, for markers D1S514, D1S2715, D1S2777, and D1S2721, and it reached 6.10 at the loci D1S2777, D1S2721, and D1S2624, according to multipoint LOD-score analysis. These markers defined a region of homozygosity that placed the gene in a 4.4-cM interval. Moreover, a recombination event detected in an unaffected 48-year-old individual excludes the D1S506 marker, thereby reducing the interval to 1.7 cM. In addition, the P0 gene, an attractive candidate because of both its location on chromosome 1q and its role in myelin structure, was excluded by physical mapping and direct sequencing.
Authors:
A Bouhouche; A Benomar; N Birouk; A Mularoni; F Meggouh; J Tassin; D Grid; A Vandenberghe; M Yahyaoui; T Chkili; A Brice; E LeGuern
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  65     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1999 Sep 
Date Detail:
Created Date:  1999-10-04     Completed Date:  1999-10-04     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  722-7     Citation Subset:  IM    
Affiliation:
INSERM U.289, Fédération de Neurologie, Hôpital de la Salpêtrière, Bâtiment Nouvelle Pharmacie, Paris, France. abouhouche@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Age of Onset
Axons / pathology*,  physiology
Charcot-Marie-Tooth Disease / genetics*,  pathology,  physiopathology
Child
Chromosome Mapping*
Chromosomes, Artificial, Yeast / genetics
Chromosomes, Human, Pair 1 / genetics*
Consanguinity
Female
Genes, Recessive*
Genetic Markers
Haplotypes
Homozygote
Humans
Lod Score*
Male
Middle Aged
Morocco / ethnology
Myelin P0 Protein / genetics
Pedigree
Recombination, Genetic
Chemical
Reg. No./Substance:
0/Genetic Markers; 0/Myelin P0 Protein
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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