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. 1998 Jul;35(7):590–593. doi: 10.1136/jmg.35.7.590

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

E Nelis 1, P De Jonghe 1, E De Vriendt 1, P I Patel 1, J J Martin 1, C Van Broeckhoven 1
PMCID: PMC1051370  PMID: 9678704

Abstract

We analysed the nerve specific promoter of the peripheral myelin protein 22 gene (PMP22) in a set of 15 unrelated patients with Charcot-Marie-Tooth type 1 disease (CMT1) and 16 unrelated patients with hereditary neuropathy with liability to pressure palsies (HNPP). In these patients no duplication/deletion nor a mutation in the coding region of the CMT1/ HNPP genes was detected. In one autosomal dominant CMT1 patient, we identified a base change in the non-coding exon 1A of PMP22 which, however, did not cosegregate with the disease in the family. This study indicates that mutations in the nerve specific PMP22 promoter and 5' untranslated exon will not be a common genetic cause of CMT1A and HNPP.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Chance P. F., Matsunami N., Lensch W., Smith B., Bird T. D. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. Neurology. 1992 Oct;42(10):2037–2041. doi: 10.1212/wnl.42.10.2037. [DOI] [PubMed] [Google Scholar]
  2. De Jonghe P., Timmerman V., Nelis E., Martin J. J., Van Broeckhoven C. Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripher Nerv Syst. 1997;2(4):370–387. [PubMed] [Google Scholar]
  3. Ionasescu V. V., Searby C., Ionasescu R., Neuhaus I. M., Werner R. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology. 1996 Aug;47(2):541–544. doi: 10.1212/wnl.47.2.541. [DOI] [PubMed] [Google Scholar]
  4. Lupski J. R., de Oca-Luna R. M., Slaugenhaupt S., Pentao L., Guzzetta V., Trask B. J., Saucedo-Cardenas O., Barker D. F., Killian J. M., Garcia C. A. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26;66(2):219–232. doi: 10.1016/0092-8674(91)90613-4. [DOI] [PubMed] [Google Scholar]
  5. Navon R., Timmerman V., Löfgren A., Liang P., Nelis E., Zeitune M., Van Broeckhoven C. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. Prenat Diagn. 1995 Jul;15(7):633–640. doi: 10.1002/pd.1970150708. [DOI] [PubMed] [Google Scholar]
  6. Nelis E., Simokovic S., Timmerman V., Löfgren A., Backhovens H., De Jonghe P., Martin J. J., Van Broeckhoven C. Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations. Hum Mutat. 1997;9(1):47–52. doi: 10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M. [DOI] [PubMed] [Google Scholar]
  7. Nelis E., Timmerman V., De Jonghe P., Vandenberghe A., Pham-Dinh D., Dautigny A., Martin J. J., Van Broeckhoven C. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Hum Genet. 1994 Dec;94(6):653–657. doi: 10.1007/BF00206959. [DOI] [PubMed] [Google Scholar]
  8. Nelis E., Van Broeckhoven C., De Jonghe P., Löfgren A., Vandenberghe A., Latour P., Le Guern E., Brice A., Mostacciuolo M. L., Schiavon F. 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. doi: 10.1159/000472166. [DOI] [PubMed] [Google Scholar]
  9. Nelis E., Warner L. E., Vriendt E. D., Chance P. F., Lupski J. R., Van Broeckhoven C. Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet. 1996;4(6):329–333. doi: 10.1159/000472227. [DOI] [PubMed] [Google Scholar]
  10. Raeymaekers P., Timmerman V., Nelis E., Van Hul W., De Jonghe P., Martin J. J., Van Broeckhoven C. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. J Med Genet. 1992 Jan;29(1):5–11. doi: 10.1136/jmg.29.1.5. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Roa B. B., Garcia C. A., Suter U., Kulpa D. A., Wise C. A., Mueller J., Welcher A. A., Snipes G. J., Shooter E. M., Patel P. I. 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. doi: 10.1056/NEJM199307083290205. [DOI] [PubMed] [Google Scholar]
  12. Suter U., Snipes G. J., Schoener-Scott R., Welcher A. A., Pareek S., Lupski J. R., Murphy R. A., Shooter E. M., Patel P. I. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem. 1994 Oct 14;269(41):25795–25808. [PubMed] [Google Scholar]
  13. Timmerman V., Nelis E., Van Hul W., Nieuwenhuijsen B. W., Chen K. L., Wang S., Ben Othman K., Cullen B., Leach R. J., Hanemann C. O. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet. 1992 Jun;1(3):171–175. doi: 10.1038/ng0692-171. [DOI] [PubMed] [Google Scholar]

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