Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1994 Mar;31(3):193–196. doi: 10.1136/jmg.31.3.193

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

S Cochrane 1, J Bergoffen 1, N D Fairweather 1, E Müller 1, M L Mostacciuolo 1, A P Monaco 1, K H Fischbeck 1, N E Haites 1
PMCID: PMC1049740  PMID: 7912286

Abstract

X linked dominant Charcot-Marie-Tooth disease (CMTX1) has previously been localised to Xq13-21. Fifteen families were studied using 12 highly informative polymorphisms in the pericentric region of the X chromosome. Phase known recombinations in these families localise the X linked dominant CMT gene to the region distal to DXS106 (Xq11.2-12) and proximal to DXS559 (Xq13.1). These markers flank approximately 2 to 3 Mb of DNA to which GJB1 and CCG1 have already been mapped. A recent report of mutations in the GJB1 gene in subjects with CMTX1 makes this a strong candidate gene.

Full text

PDF
193

Selected References

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

  1. Beckett J., Holden J. J., Simpson N. E., White B. N., MacLeod P. M. Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13. J Neurogenet. 1986 Jul;3(4):225–231. doi: 10.3109/01677068609106852. [DOI] [PubMed] [Google Scholar]
  2. Bergoffen J., Trofatter J., Pericak-Vance M. A., Haines J. L., Chance P. F., Fischbeck K. H. Linkage localization of X-linked Charcot-Marie-Tooth disease. Am J Hum Genet. 1993 Feb;52(2):312–318. [PMC free article] [PubMed] [Google Scholar]
  3. Brown C. J., Sekiguchi T., Nishimoto T., Willard H. F. Regional localization of CCG1 gene which complements hamster cell cycle mutation BN462 to Xq11-Xq13. Somat Cell Mol Genet. 1989 Jan;15(1):93–96. doi: 10.1007/BF01534674. [DOI] [PubMed] [Google Scholar]
  4. 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]
  5. Corcos I. A., Lafrenière R. G., Begy C. R., Loch-Caruso R., Willard H. F., Glover T. W. Refined localization of human connexin32 gene locus, GJB1, to Xq13.1. Genomics. 1992 Jun;13(2):479–480. doi: 10.1016/0888-7543(92)90278-z. [DOI] [PubMed] [Google Scholar]
  6. Deposition of atomic coordinates and other data for crystal structures. Nucleic Acids Res. 1992 Jan 11;20(1):1–1. [PMC free article] [PubMed] [Google Scholar]
  7. Dermietzel R., Spray D. C. Gap junctions in the brain: where, what type, how many and why? Trends Neurosci. 1993 May;16(5):186–192. doi: 10.1016/0166-2236(93)90151-b. [DOI] [PubMed] [Google Scholar]
  8. Fairweather N., Chelly J., Monaco A. P. Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach. Hum Mol Genet. 1993 May;2(5):607–608. doi: 10.1093/hmg/2.5.607. [DOI] [PubMed] [Google Scholar]
  9. Fischbeck K. H., ar-Rushdi N., Pericak-Vance M., Rozear M., Roses A. D., Fryns J. P. X-linked neuropathy: gene localization with DNA probes. Ann Neurol. 1986 Oct;20(4):527–532. doi: 10.1002/ana.410200414. [DOI] [PubMed] [Google Scholar]
  10. Fraser N. J., Boyd Y., Brownlee G. G., Craig I. W. Multi-allelic RFLP for M27 beta, an anonymous single copy genomic clone at Xp11.3-Xcen [HGM9 provisional no. DXS255]. Nucleic Acids Res. 1987 Nov 25;15(22):9616–9616. doi: 10.1093/nar/15.22.9616. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Gal A., Mücke J., Theile H., Wieacker P. F., Ropers H. H., Wienker T. F. X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet. 1985;70(1):38–42. doi: 10.1007/BF00389456. [DOI] [PubMed] [Google Scholar]
  12. Goonewardena P., Welihinda J., Anvret M., Gyftodimou J., Haegermark A., Iselius L., Lindsten J., Pettersson U. A linkage study of the locus for X-linked Charcot-Marie-Tooth disease. Clin Genet. 1988 Jun;33(6):435–440. doi: 10.1111/j.1399-0004.1988.tb03477.x. [DOI] [PubMed] [Google Scholar]
  13. Graeber M. B., Monaco A. P., Chelly J., Müller U. Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56. Hum Genet. 1992 Nov;90(3):270–274. doi: 10.1007/BF00220077. [DOI] [PubMed] [Google Scholar]
  14. Haites N., Fairweather N., Clark C., Kelly K. F., Simpson S., Johnston A. W. Linkage in a family with X-linked Charcot-Marie-Tooth disease. Clin Genet. 1989 Jun;35(6):399–403. doi: 10.1111/j.1399-0004.1989.tb02964.x. [DOI] [PubMed] [Google Scholar]
  15. Hutz M. H., Michelson A. M., Antonarakis S. E., Orkin S. H., Kazazian H. H., Jr Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome. Hum Genet. 1984;66(2-3):217–219. doi: 10.1007/BF00286604. [DOI] [PubMed] [Google Scholar]
  16. Ionasescu V. V., Trofatter J., Haines J. L., Summers A. M., Ionasescu R., Searby C. Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. Am J Hum Genet. 1991 Jun;48(6):1075–1083. [PMC free article] [PubMed] [Google Scholar]
  17. Kunkel L. M., Smith K. D., Boyer S. H., Borgaonkar D. S., Wachtel S. S., Miller O. J., Breg W. R., Jones H. W., Jr, Rary J. M. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. doi: 10.1073/pnas.74.3.1245. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. La Spada A. R., Wilson E. M., Lubahn D. B., Harding A. E., Fischbeck K. H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991 Jul 4;352(6330):77–79. doi: 10.1038/352077a0. [DOI] [PubMed] [Google Scholar]
  19. Lafrenière R. G., Brown C. J., Powers V. E., Carrel L., Davies K. E., Barker D. F., Willard H. F. Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. Genomics. 1991 Oct;11(2):352–363. doi: 10.1016/0888-7543(91)90143-3. [DOI] [PubMed] [Google Scholar]
  20. 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]
  21. Markiewicz S., DiSanto J. P., Chelly J., Fairweather N., Le Marec B., Griscelli C., Graeber M. B., Müller U., Fischer A., Monaco A. P. Fine mapping of the human SCIDX1 locus at Xq12-13.1. Hum Mol Genet. 1993 Jun;2(6):651–654. doi: 10.1093/hmg/2.6.651. [DOI] [PubMed] [Google Scholar]
  22. Mostacciuolo M. L., Müller E., Fardin P., Micaglio G. F., Bardoni B., Guioli S., Camerino G., Danieli G. A. X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region. Hum Genet. 1991 May;87(1):23–27. doi: 10.1007/BF01213086. [DOI] [PubMed] [Google Scholar]
  23. Raeymaekers P., Timmerman V., Nelis E., De Jonghe P., Hoogendijk J. E., Baas F., Barker D. F., Martin J. J., De Visser M., Bolhuis P. A. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord. 1991;1(2):93–97. doi: 10.1016/0960-8966(91)90055-w. [DOI] [PubMed] [Google Scholar]
  24. Ram K. T., Barker D. F., Puck J. M. Dinucleotide repeat polymorphism at the DXS441 locus. Nucleic Acids Res. 1992 Mar 25;20(6):1428–1428. doi: 10.1093/nar/20.6.1428. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Roustan P., Curtis A. R., Kamakari S., Thiselton D., Lindsay S., Bhattacharya S. S. Dinucleotide repeat polymorphism at the DXS559 locus. Hum Mol Genet. 1992 Dec;1(9):778–778. doi: 10.1093/hmg/1.9.778. [DOI] [PubMed] [Google Scholar]
  26. Rozear M. P., Pericak-Vance M. A., Fischbeck K., Stajich J. M., Gaskell P. C., Jr, Krendel D. A., Graham D. G., Dawson D. V., Roses A. D. Hereditary motor and sensory neuropathy, X-linked: a half century follow-up. Neurology. 1987 Sep;37(9):1460–1465. doi: 10.1212/wnl.37.9.1460. [DOI] [PubMed] [Google Scholar]
  27. Sekiguchi T., Yoshida M. C., Sekiguchi M., Nishimoto T. Isolation of a human X chromosome-linked gene essential for progression from G1 to S phase of the cell cycle. Exp Cell Res. 1987 Apr;169(2):395–407. doi: 10.1016/0014-4827(87)90200-x. [DOI] [PubMed] [Google Scholar]
  28. Vita G., Askanas V., Martinuzzi A., Engel W. K. Histoenzymatic profile of human muscle cultured in monolayer and innervated de novo by fetal rat spinal cord. Muscle Nerve. 1988 Jan;11(1):1–9. doi: 10.1002/mus.880110104. [DOI] [PubMed] [Google Scholar]
  29. 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]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES