Home LiteratureArticle Details
PMID: 9513184 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review

Charcot-Marie-Tooth disease: lessons in genetic mechanisms.

Molecular medicine (Cambridge, Mass.) ·Vol. 4 ·No. 1 ·1998-01-00 ·Pages 3-11

Lupski JR

Abstract

暂无摘要

MeSH Terms
Charcot-Marie-Tooth Disease/genetics Chromosomes, Human, Pair 17 DNA Transposable Elements Gene Dosage Gene Rearrangement Humans Karyotyping Myelin Sheath/chemistry,genetics Protein Structure, Secondary Recombination, Genetic Sequence Deletion
Chemicals
DNA Transposable Elements
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Lupski J R
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. jlupski@bmc.tmc.edu
References (48)
48 references, click to expand
  1. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.
    Am J Hum Genet. 1982 May;34(3):388-94 PMID: 6952764
  2. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.
    J Neurosci. 1997 Jun 15;17(12):4662-71 PMID: 9169527
  3. Interstitial deletion of (17)(p11.2p11.2) in nine patients.
    Am J Med Genet. 1986 Jul;24(3):393-414 PMID: 2425619
  4. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.
    Exp Neurol. 1989 May;104(2):186-9 PMID: 2707366
  5. DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
    Cell. 1991 Jul 26;66(2):219-32 PMID: 1677316
  6. Trembler mouse carries a point mutation in a myelin gene.
    Nature. 1992 Mar 19;356(6366):241-4 PMID: 1552943
  7. A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.
    Proc Natl Acad Sci U S A. 1992 May 15;89(10):4382-6 PMID: 1374899
  8. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.
    Neuromuscul Disord. 1991;1(2):93-7 PMID: 1822787
  9. Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A.
    Neurology. 1992 Dec;42(12):2295-9 PMID: 1461382
  10. DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
    Cell. 1993 Jan 15;72(1):143-51 PMID: 8422677
  11. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
    Nat Genet. 1992 Apr;1(1):29-33 PMID: 1301995
  12. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
    Nat Genet. 1992 Jun;1(3):159-65 PMID: 1303228
  13. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
    Nat Genet. 1992 Jun;1(3):166-70 PMID: 1303229
  14. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
    Nat Genet. 1992 Jun;1(3):171-5 PMID: 1303230
  15. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
    Nat Genet. 1992 Jun;1(3):176-9 PMID: 1303231
  16. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
    Nat Genet. 1992 Dec;2(4):288-91 PMID: 1303281
  17. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
    Nat Genet. 1992 Dec;2(4):292-300 PMID: 1303282
  18. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
    N Engl J Med. 1993 Jul 8;329(2):96-101 PMID: 8510709
  19. Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.
    Neurology. 1993 Sep;43(9):1806-8 PMID: 8414036
  20. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
    Am J Med Genet. 1993 Sep 15;47(4):504-11 PMID: 8256814
  21. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
    Nat Genet. 1993 Nov;5(3):269-73 PMID: 8275092
  22. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A.
    Ann Neurol. 1994 Apr;35(4):445-50 PMID: 7512319
  23. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
    Hum Mol Genet. 1994 Feb;3(2):223-8 PMID: 8004087
  24. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
    Nat Genet. 1994 Mar;6(3):263-6 PMID: 8012388
  25. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.
    Nat Genet. 1995 Nov;11(3):274-80 PMID: 7581450
  26. Chromosomal duplications in bacteria, fruit flies, and humans.
    Am J Hum Genet. 1996 Jan;58(1):21-7 PMID: 8554058
  27. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy.
    Muscle Nerve. 1996 Jan;19(1):74-8 PMID: 8538673
  28. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
    Nat Genet. 1996 Mar;12(3):288-97 PMID: 8589720
  29. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
    Hum Genet. 1996 May;97(5):642-9 PMID: 8655146
  30. A transgenic rat model of Charcot-Marie-Tooth disease.
    Neuron. 1996 May;16(5):1049-60 PMID: 8630243
  31. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
    Eur J Hum Genet. 1996;4(1):25-33 PMID: 8800924
  32. DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies.
    Clin Chem. 1996 Jul;42(7):995-8 PMID: 8674212
  33. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.
    Hum Mol Genet. 1996 May;5(5):563-9 PMID: 8733121
  34. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage.
    J Neurosci. 1996 Sep 1;16(17):5351-60 PMID: 8757248
  35. Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot.
    Hum Mol Genet. 1996 Jun;5(6):745-53 PMID: 8776588
  36. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin.
    Neuron. 1996 Sep;17(3):435-49 PMID: 8816707
  37. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
    Neuron. 1996 Sep;17(3):451-60 PMID: 8816708
  38. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
    Hum Genet. 1996 Dec;98(6):710-8 PMID: 8931707
  39. Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.
    Hum Mutat. 1996;8(4):362-5 PMID: 8956042
  40. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
    J Med Genet. 1997 Jan;34(1):43-9 PMID: 9032649
  41. A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.
    Neurology. 1997 Feb;48(2):450-2 PMID: 9040737
  42. Clinical and morphological phenotype of HMSN 1A mosaicism.
    Neuromuscul Disord. 1997 Jan;7(1):27-31 PMID: 9132137
  43. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
    Am J Med Genet. 1997 Mar 31;69(3):325-31 PMID: 9096765
  44. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
    Genomics. 1997 May 15;42(1):161-4 PMID: 9177788
  45. Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies.
    Cold Spring Harb Symp Quant Biol. 1996;61:659-71 PMID: 9246492
  46. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
    Hum Mol Genet. 1997 Sep;6(9):1595-603 PMID: 9285799
  47. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
    Nat Genet. 1997 Oct;17(2):154-63 PMID: 9326934
  48. X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.
    Hum Genet. 1985;70(1):38-42 PMID: 2987105
Article Info
Journal
Molecular medicine (Cambridge, Mass.)
Abbr.
Mol Med
ISSN
1076-1551
Published
1998-01-00
Pages
3-11
Language
English
Region
England
NLM ID
9501023
PMCID
PMC2230264
Subset
IM
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com