Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

B. B. Roa, Peter J Dyck, H. G. Marks, P. F. Chance, J. R. Lupski

Research output: Contribution to journalArticle

217 Citations (Scopus)

Abstract

Dejerine-Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Clinical symptoms are similar but more severe than Charcot-Marie-Tooth disease type 1 (CMT1), of which the major subtype, CMT1A, results either from duplication of a 1.5-megabase DNA region in chromosome 17p11.2-p12 containing the myelin gene PMP22, or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated Dejerine-Sottas patients identified individual missense point mutations present in the heterozygous state. These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22.

Original languageEnglish (US)
Pages (from-to)269-273
Number of pages5
JournalNature Genetics
Volume5
Issue number3
DOIs
StatePublished - 1993

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Hereditary Sensory and Motor Neuropathy
Myelin Proteins
Point Mutation
Genes
Charcot-Marie-Tooth Disease
Missense Mutation
Pedigree
Myelin Sheath
Open Reading Frames
Chromosomes
Alleles
DNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. / Roa, B. B.; Dyck, Peter J; Marks, H. G.; Chance, P. F.; Lupski, J. R.

In: Nature Genetics, Vol. 5, No. 3, 1993, p. 269-273.

Research output: Contribution to journalArticle

Roa, B. B. ; Dyck, Peter J ; Marks, H. G. ; Chance, P. F. ; Lupski, J. R. / Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. In: Nature Genetics. 1993 ; Vol. 5, No. 3. pp. 269-273.
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