Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q

K. Ben Othmane, F. Hentati, F. Lennon, C. Ben Hamida, S. Blel, A. D. Roses, Margaret A Pericak-Vance, M. Ben Hamida, Jeffery M Vance

Research output: Contribution to journalArticle

181 Citations (Scopus)

Abstract

Autosomal recessive Charcot - Marie - Tooth (CMT) disease (CMT4) is a complex group of severe childhood motor and sensory neuropathies, characterized by an early age of onset with rapidly progressive distal limb weakness and atrophy. One subgroup designated CMT4 type A (CMT4A) was selected from a series of Tunisian CMT4 families according to the following electrophysiological and pathological criteria: slow motor nerve conduction velocity (MCV), severe hypomyelination upon nerve biopsy with basal lamina onion bulbs and no myelin outfolding. In an attempt to localize the CMT4A locus, we studied four inbred families with 13 affected patients. Significant evidence for linkage was found for several markers from chromosome 8q13-21.1 (D8S279, D8S164, D8S286, D8S84, D8S275 and D8S167). An overall two point peak lod score of z(θ + ̂)=9.19 at θ + ̂=0.00 (95% confidence limit 0.00-0.08) was obtained for D8S164. No evidence of genetic heterogeneity was found. The chromosomal localization of one form of CMT4 will have important implications in clarifying the nosology of this complex group of disorders.

Original languageEnglish
Pages (from-to)1625-1628
Number of pages4
JournalHuman Molecular Genetics
Volume2
Issue number10
StatePublished - Oct 1 1993
Externally publishedYes

Fingerprint

Charcot-Marie-Tooth Disease
Chromosomes
Nerve
Linkage
Chromosome
Locus
Lod Score
Onion
Lamina
Confidence Limits
Onions
Genetic Heterogeneity
Biopsy
Neural Conduction
Myelin Sheath
Genetic Markers
Age of Onset
Basement Membrane
Conduction
Atrophy

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Ben Othmane, K., Hentati, F., Lennon, F., Ben Hamida, C., Blel, S., Roses, A. D., ... Vance, J. M. (1993). Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Human Molecular Genetics, 2(10), 1625-1628.

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. / Ben Othmane, K.; Hentati, F.; Lennon, F.; Ben Hamida, C.; Blel, S.; Roses, A. D.; Pericak-Vance, Margaret A; Ben Hamida, M.; Vance, Jeffery M.

In: Human Molecular Genetics, Vol. 2, No. 10, 01.10.1993, p. 1625-1628.

Research output: Contribution to journalArticle

Ben Othmane, K, Hentati, F, Lennon, F, Ben Hamida, C, Blel, S, Roses, AD, Pericak-Vance, MA, Ben Hamida, M & Vance, JM 1993, 'Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q', Human Molecular Genetics, vol. 2, no. 10, pp. 1625-1628.
Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Human Molecular Genetics. 1993 Oct 1;2(10):1625-1628.
Ben Othmane, K. ; Hentati, F. ; Lennon, F. ; Ben Hamida, C. ; Blel, S. ; Roses, A. D. ; Pericak-Vance, Margaret A ; Ben Hamida, M. ; Vance, Jeffery M. / Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. In: Human Molecular Genetics. 1993 ; Vol. 2, No. 10. pp. 1625-1628.
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