Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene
Autosomal recessive Charcot-Marie-Tooth disease (CMT) type 4 (CMT4) is a complex group of demyelinating hereditary motor and sensory neuropathies presenting genetic heterogeneity. Five different subtypes that correspond to six different chromosomal locations have been described. We hereby report a l...
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Published in | American journal of human genetics Vol. 67; no. 1; pp. 236 - 243 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
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Elsevier Inc
01.07.2000
University of Chicago Press The American Society of Human Genetics |
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Abstract | Autosomal recessive Charcot-Marie-Tooth disease (CMT) type 4 (CMT4) is a complex group of demyelinating hereditary motor and sensory neuropathies presenting genetic heterogeneity. Five different subtypes that correspond to six different chromosomal locations have been described. We hereby report a large inbred Lebanese family affected with autosomal recessive CMT4, in whom we have excluded linkage to the already-known loci. The results of a genomewide search demonstrated linkage to a locus on chromosome 19q13.1-13.3, over an 8.5-cM interval between markers D19S220 and D19S412. A maximum pairwise LOD score of 5.37 for marker D19S420, at recombination fraction [θ] .00, and a multipoint LOD score of 10.3 for marker D19S881, at θ=.00, strongly supported linkage to this locus. Clinical features and the results of histopathologic studies confirm that the disease affecting this family constitutes a previously unknown demyelinating autosomal recessive CMT subtype known as “CMT4F.” The myelin-associated glycoprotein (
MAG) gene, located on 19q13.1 and specifically expressed in the CNS and the peripheral nervous system, was ruled out as being the gene responsible for this form of CMT. |
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AbstractList | Autosomal recessive Charcot-Marie-Tooth disease (CMT) type 4 (CMT4) is a complex group of demyelinating hereditary motor and sensory neuropathies presenting genetic heterogeneity. Five different subtypes that correspond to six different chromosomal locations have been described. We hereby report a large inbred Lebanese family affected with autosomal recessive CMT4, in whom we have excluded linkage to the already-known loci. The results of a genomewide search demonstrated linkage to a locus on chromosome 19q13.1-13.3, over an 8.5-cM interval between markers D19S220 and D19S412. A maximum pairwise LOD score of 5.37 for marker D19S420, at recombination fraction [θ] .00, and a multipoint LOD score of 10.3 for marker D19S881, at
θ=.00
, strongly supported linkage to this locus. Clinical features and the results of histopathologic studies confirm that the disease affecting this family constitutes a previously unknown demyelinating autosomal recessive CMT subtype known as “CMT4F.” The myelin-associated glycoprotein (
MAG
) gene, located on 19q13.1 and specifically expressed in the CNS and the peripheral nervous system, was ruled out as being the gene responsible for this form of CMT. Autosomal recessive Charcot-Marie-Tooth disease (CMT) type 4 (CMT4) is a complex group of demyelinating hereditary motor and sensory neuropathies presenting genetic heterogeneity. Five different subtypes that correspond to six different chromosomal locations have been described. We hereby report a large inbred Lebanese family affected with autosomal recessive CMT4, in whom we have excluded linkage to the already-known loci. The results of a genomewide search demonstrated linkage to a locus on chromosome 19q13.1-13.3, over an 8.5-cM interval between markers D19S220 and D19S412. A maximum pairwise LOD score of 5.37 for marker D19S420, at recombination fraction [θ] .00, and a multipoint LOD score of 10.3 for marker D19S881, at θ=.00, strongly supported linkage to this locus. Clinical features and the results of histopathologic studies confirm that the disease affecting this family constitutes a previously unknown demyelinating autosomal recessive CMT subtype known as “CMT4F.” The myelin-associated glycoprotein ( MAG) gene, located on 19q13.1 and specifically expressed in the CNS and the peripheral nervous system, was ruled out as being the gene responsible for this form of CMT. Autosomal recessive Charcot-Marie-Tooth disease (CMT) type 4 (CMT4) is a complex group of demyelinating hereditary motor and sensory neuropathies presenting genetic heterogeneity. Five different subtypes that correspond to six different chromosomal locations have been described. We hereby report a large inbred Lebanese family affected with autosomal recessive CMT4, in whom we have excluded linkage to the already-known loci. The results of a genomewide search demonstrated linkage to a locus on chromosome 19q13.1-13.3, over an 8.5-cM interval between markers D19S220 and D19S412. A maximum pairwise LOD score of 5.37 for marker D19S420, at recombination fraction [theta].00, and a multipoint LOD score of 10.3 for marker D19S881, at straight theta = .00, strongly supported linkage to this locus. Clinical features and the results of histopathologic studies confirm that the disease affecting this family constitutes a previously unknown demyelinating autosomal recessive CMT subtype known as "CMT4F." The myelin-associated glycoprotein (MAG) gene, located on 19q13.1 and specifically expressed in the CNS and the peripheral nervous system, was ruled out as being the gene responsible for this form of CMT. |
Author | Chouery, Eliane Loiselet, Jacques Delague, Valérie Tuffery, Sylvie Claustres, Mireille Bareil, Corinne Maisonobe, Thierry Mégarbané, André Bouvagnet, Patrice Koussa, Salam |
AuthorAffiliation | 1 Unité de Génétique Médicale, Laboratoire de Génétique Moléculaire, Faculté de Médecine, Université Saint-Joseph, and 2 Service de Neurologie, Hôtel Dieu de France, Beirut; 3 Laboratoire de Génétique Moléculaire, Institut de Biologie, Montpellier, France; 4 Laboratoire de Génétique Moléculaire Humaine, Institut Nétien, Université Claude Bernard, Lyon; and 5 Service de Neurologie, Hôpital la Pitié Salpêtrière, Paris |
AuthorAffiliation_xml | – name: 1 Unité de Génétique Médicale, Laboratoire de Génétique Moléculaire, Faculté de Médecine, Université Saint-Joseph, and 2 Service de Neurologie, Hôtel Dieu de France, Beirut; 3 Laboratoire de Génétique Moléculaire, Institut de Biologie, Montpellier, France; 4 Laboratoire de Génétique Moléculaire Humaine, Institut Nétien, Université Claude Bernard, Lyon; and 5 Service de Neurologie, Hôpital la Pitié Salpêtrière, Paris |
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Copyright | 2000 The American Society of Human Genetics 2000 INIST-CNRS 2000 by The American Society of Human Genetics. All rights reserved. 2000 |
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Keywords | Genetic mapping Human Neuromuscular diseases Nervous system diseases Family study Pathogenesis Clinical form Genetic determinism Genetic disease Chromosome F19 Phenotype Gene Charcot Marie Tooth disease Autosomal character Central nervous system disease Recessive character Degenerative disease Consanguinity Locus Spinal cord disease Novelty |
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SubjectTerms | Adolescent Adult Age of Onset Biological and medical sciences Charcot-Marie-Tooth Disease - epidemiology Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - physiopathology Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 19 - genetics Consanguinity Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Demyelinating Diseases - epidemiology Demyelinating Diseases - genetics Demyelinating Diseases - physiopathology Disease Progression Female Genes, Recessive - genetics Genetic Heterogeneity Genetic Markers - genetics Haplotypes - genetics Humans Infant Infant, Newborn Islam Lebanon Male Medical sciences Middle Aged Molecular Sequence Data Myelin-Associated Glycoprotein - genetics Neurology Pedigree |
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Title | Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene |
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