Journal ArticleDOI
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.
P Raeymaekers,Vincent Timmerman,Eva Nelis,P. De Jonghe,Jessica E. Hoogendijk,Frank Baas,David F. Barker,J.J. Martin,M. de Visser,P.A. Bolhuis +9 more
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TLDR
It is proposed that the duplication in 17p11.2 itself is the disease causing mutation in all the HMSN I families analyzed, and different allelic combinations were found segregating with the duplicates in different families linkage disequilibrium was not a significant factor.About:
This article is published in Neuromuscular Disorders.The article was published on 1991-01-01. It has received 568 citations till now. The article focuses on the topics: Hereditary motor and sensory neuropathy & Charcot-Marie-Tooth Disease Type 1A.read more
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Genome architecture, rearrangements and genomic disorders
TL;DR: An increasing number of human diseases are recognized to result from recurrent DNA rearrangements involving unstable genomic regions, in which the clinical phenotype is a consequence of abnormal dosage of gene(s) located within the rearranged genomes.
Journal ArticleDOI
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
Phillip F. Chance,Phillip F. Chance,Mary Kathryn Alderson,Mary Kathryn Alderson,Mary Kathryn Alderson,Kathleen A. Leppig,M. William Lensch,Norisada Matsunami,Norisada Matsunami,Brooke Smith,Phillip D. Swanson,Shannon J. Odelberg,Christine M. Disteche,Thomas D. Bird,Thomas D. Bird +14 more
TL;DR: The HNPP locus is assigned to chromosome 17p11.2 and the presence of a large interstitial deletion associated with this disorder is demonstrated in three unrelated pedigrees, suggesting that these genetic disorders may be the result of reciprocal products of unequal crossover.
Journal ArticleDOI
Mechanisms for human genomic rearrangements
TL;DR: NAHR, NHEJ and FoSTeS probably account for the majority of genomic rearrangements in the human genome and the frequency distribution of the three at a given locus may partially reflect the genomic architecture in proximity to that locus.
Journal ArticleDOI
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
Pragna Patel,Benjamin B. Roa,A A Welcher,A A Welcher,Schoener-Scott R,Barbara J. Trask,Liu Pentao,G J Snipes,Carlos A. Garcia,Uta Francke,Eric M. Shooter,Lupski,Ueli Suter +12 more
TL;DR: It is suggested that a gene dosage effect involving PMP–22 is at least partially responsible for the demyelinating neuropathy seen in CMT1A.
Journal ArticleDOI
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
Laura E. Warner,Pedro Mancias,Ian J. Butler,Craig M. McDonald,L. Keppen,K. G. Koob,James R. Lupski +6 more
TL;DR: One recessive and two dominant missense mutations in EGR2 are identified (within regions encoding conserved functional domains) in patients with congenital hypomyelinating neuropathy (CHN) and a family with Charcot-Marie-Tooth type 1 (CMT1).
References
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Journal ArticleDOI
Characterization of a panel of highly variable minisatellites cloned from human DNA.
TL;DR: Five of the most variable loci detected in human DNA by hybridization with DNA fingerprint probes have been cloned and characterized, and are illustrated by an analysis of forensic specimens from two victims who had been sexually assaulted and murdered.
Journal ArticleDOI
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17
Jeffery M. Vance,Garth A. Nicholson,Larry H. Yamaoka,J. Stajich,C. S. Stewart,Marcy C. Speer,W. Y. Hung,A. D. Roses,David F. Barker,Margaret A. Pericak-Vance +9 more
TL;DR: This work reports linkage of six CMT Type 1a families to the chromosome 17 markers EW301 and pA10-41 (D17S71) with maximum LOD scores of zeta = 10.49 at theta (maximum recombination fraction) = 0.06, respectively.
Journal ArticleDOI
Genetic aspects of hereditary motor and sensory neuropathy (types I and II)
A E Harding,P K Thomas +1 more
TL;DR: The genetic features of a series of 227 patients with hereditary motor and sensory neuropathy have been analysed and single cases of HMSN, especially the type II form in view of its later onset, are likely to be unrecognised clinically and will be classified as `cryptogenic' neuropathy.
Journal Article
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I)
Phillip F. Chance,Thomas D. Bird,Peter O'Connell,Hillary Lipe,Jean Marc Lalouel,Mark Leppert +5 more
TL;DR: DNA segregation patterns of DNA markers from the pericentromeric regions of chromosomes 1 and 17 were studied in seven pedigrees segregating an autosomal dominant gene for Charcot-Marie-Tooth neuropathy type I and implicate the existence of a third autosomal locus, in addition to a locu on chromosome 17, and a probable locus on chromosome 1.
Journal ArticleDOI
Prevalence of hereditary motor and sensory neuropathy in Cantabria.
TL;DR: The results of the study indicate that the majority of cases were hereditary as a dominant trait and the prevalence for the Type I HMSN cases did not differ from that of Type II cases.