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. 1996 May;33(5):413–415. doi: 10.1136/jmg.33.5.413

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.

A Oterino 1, F I Montón 1, V M Cabrera 1, F Pinto 1, A Gonzalez 1, N R Lavilla 1
PMCID: PMC1050613  PMID: 8733054

Abstract

A Spanish family with X linked dominant Charcot-Marie-Tooth (CMTX1) neuropathy was screened for point mutations in the connexin32 gene (GJ beta 1). The patients showed a C-T transition at position 552 which predicts arginine to tryptophan substitution at amino acid 164 (R164K). This mutation destroys an AciI restriction site at position 552 and creates a PflMI restriction site.

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Selected References

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  1. Bergoffen J., Scherer S. S., Wang S., Scott M. O., Bone L. J., Paul D. L., Chen K., Lensch M. W., Chance P. F., Fischbeck K. H. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24;262(5142):2039–2042. doi: 10.1126/science.8266101. [DOI] [PubMed] [Google Scholar]
  2. Browne D. L., Zonana J., Litt M. Dinucleotide repeat polymorphism at the PGK1 locus. Nucleic Acids Res. 1991 Apr 11;19(7):1721–1721. [PMC free article] [PubMed] [Google Scholar]
  3. Browne D. L., Zonana J., Litt M. Dinucleotide repeat polymorphism at the PGK1P1 locus. Nucleic Acids Res. 1992 Mar 11;20(5):1169–1169. doi: 10.1093/nar/20.5.1169-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Combarros O., Calleja J., Polo J. M., Berciano J. Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand. 1987 Jan;75(1):9–12. doi: 10.1111/j.1600-0404.1987.tb07882.x. [DOI] [PubMed] [Google Scholar]
  5. Fairweather N., Bell C., Cochrane S., Chelly J., Wang S., Mostacciuolo M. L., Monaco A. P., Haites N. E. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) Hum Mol Genet. 1994 Jan;3(1):29–34. doi: 10.1093/hmg/3.1.29. [DOI] [PubMed] [Google Scholar]
  6. Ionasescu V., Searby C., Ionasescu R., Meschino W. New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy. Neuromuscul Disord. 1995 Jul;5(4):297–299. doi: 10.1016/0960-8966(94)00077-m. [DOI] [PubMed] [Google Scholar]
  7. Ionasescu V., Searby C., Ionasescu R. Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet. 1994 Feb;3(2):355–358. doi: 10.1093/hmg/3.2.355. [DOI] [PubMed] [Google Scholar]
  8. Ishizawa M., Kobayashi Y., Miyamura T., Matsuura S. Simple procedure of DNA isolation from human serum. Nucleic Acids Res. 1991 Oct 25;19(20):5792–5792. doi: 10.1093/nar/19.20.5792. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Kaneshige T., Takagi K., Nakamura S., Hirasawa T., Sada M., Uchida K. Genetic analysis using fingernail DNA. Nucleic Acids Res. 1992 Oct 25;20(20):5489–5490. doi: 10.1093/nar/20.20.5489. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Kumar N. M., Gilula N. B. Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein. J Cell Biol. 1986 Sep;103(3):767–776. doi: 10.1083/jcb.103.3.767. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Nicholson G., Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology. 1993 Dec;43(12):2558–2564. doi: 10.1212/wnl.43.12.2558. [DOI] [PubMed] [Google Scholar]
  12. Orth U., Fairweather N., Exler M. C., Schwinger E., Gal A. X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32. Hum Mol Genet. 1994 Sep;3(9):1699–1700. doi: 10.1093/hmg/3.9.1699. [DOI] [PubMed] [Google Scholar]
  13. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet. 1974;6(2):98–118. doi: 10.1111/j.1399-0004.1974.tb00638.x. [DOI] [PubMed] [Google Scholar]
  14. Suchyna T. M., Xu L. X., Gao F., Fourtner C. R., Nicholson B. J. Identification of a proline residue as a transduction element involved in voltage gating of gap junctions. Nature. 1993 Oct 28;365(6449):847–849. doi: 10.1038/365847a0. [DOI] [PubMed] [Google Scholar]
  15. Weber J. L., Kwitek A. E., May P. E., Polymeropoulos M. H., Ledbetter S. Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci. Nucleic Acids Res. 1990 Jul 11;18(13):4037–4037. doi: 10.1093/nar/18.13.4037. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Yap E. P., McGee J. O. Nonisotopic discontinuous phase single strand conformation polymorphism (DP-SSCP): genetic profiling of D-loop of human mitochondrial (mt) DNA. Nucleic Acids Res. 1993 Aug 25;21(17):4155–4155. doi: 10.1093/nar/21.17.4155. [DOI] [PMC free article] [PubMed] [Google Scholar]

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