Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity

Margaret A Pericak-Vance, Marcy C. Speer, Felicia Lennon, Sandra G. West, Marisa M. Menold, Jeffrey M. Stajich, Chanteile M. Wolpert, Brandon D. Slotterbeck, Masaaki Saito, Richard W. Tim, Marvin P. Rozear, Lefkos T. Middleton, Shoji Tsuji, Jeffery M Vance

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

The Charcot-Marie-Tooth (CMT) neuropathies are a group of disorders exhibiting neurophysical, pathological and genetic heterogeneity. CMT2 is a diagnostic subtype of this group of disorders characterized by variable expression and age-of-onset and normal or slightly diminished nerve conduction velocities. Previously, linkage and heterogeneity had been reported in CMT2 with linked families localizing to chromosome 1p (CMT2A). Recently a second CMT2 locus has been described on chromosome 7 in a single large CMT2 family (CMT2D). We have performed pedigree linkage analysis on 15 CMT2 families (N = 371 individuals, 106 affected family members) and have confirmed linkage to chromosome 7. Furthermore, using both admixture and multipoint linkage analysis we show conclusive evidence for additional heterogeneity within this clinical subtype with evidence of families that exclude linkage to both the CMT2D and CMT2A regions. In addition, unlike the previous report we found no obvious consistent clinical differences between the linked family types.

Original languageEnglish
Pages (from-to)89-93
Number of pages5
JournalNeurogenetics
Volume1
Issue number2
StatePublished - Dec 1 1997
Externally publishedYes

Fingerprint

Genetic Heterogeneity
Chromosomes, Human, Pair 7
Neural Conduction
Pedigree
Age of Onset
Tooth
Chromosomes

Keywords

  • Charcot-Marie-Tooth
  • Chromosome 7
  • Gene mapping
  • Heterogeneity
  • Linkage
  • Neuropathy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)

Cite this

Pericak-Vance, M. A., Speer, M. C., Lennon, F., West, S. G., Menold, M. M., Stajich, J. M., ... Vance, J. M. (1997). Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics, 1(2), 89-93.

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. / Pericak-Vance, Margaret A; Speer, Marcy C.; Lennon, Felicia; West, Sandra G.; Menold, Marisa M.; Stajich, Jeffrey M.; Wolpert, Chanteile M.; Slotterbeck, Brandon D.; Saito, Masaaki; Tim, Richard W.; Rozear, Marvin P.; Middleton, Lefkos T.; Tsuji, Shoji; Vance, Jeffery M.

In: Neurogenetics, Vol. 1, No. 2, 01.12.1997, p. 89-93.

Research output: Contribution to journalArticle

Pericak-Vance, MA, Speer, MC, Lennon, F, West, SG, Menold, MM, Stajich, JM, Wolpert, CM, Slotterbeck, BD, Saito, M, Tim, RW, Rozear, MP, Middleton, LT, Tsuji, S & Vance, JM 1997, 'Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity', Neurogenetics, vol. 1, no. 2, pp. 89-93.
Pericak-Vance MA, Speer MC, Lennon F, West SG, Menold MM, Stajich JM et al. Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics. 1997 Dec 1;1(2):89-93.
Pericak-Vance, Margaret A ; Speer, Marcy C. ; Lennon, Felicia ; West, Sandra G. ; Menold, Marisa M. ; Stajich, Jeffrey M. ; Wolpert, Chanteile M. ; Slotterbeck, Brandon D. ; Saito, Masaaki ; Tim, Richard W. ; Rozear, Marvin P. ; Middleton, Lefkos T. ; Tsuji, Shoji ; Vance, Jeffery M. / Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. In: Neurogenetics. 1997 ; Vol. 1, No. 2. pp. 89-93.
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