Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1995 Jan;32(1):14–18. doi: 10.1136/jmg.32.1.14

Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.

M R Passos-Bueno 1, A Cerqueira 1, M Vainzof 1, S K Marie 1, M Zatz 1
PMCID: PMC1050172  PMID: 7897620

Abstract

Results of genealogical, DNA, and clinical findings in 41 families with 235 patients affected with myotonic dystrophy (DM) led to the following observations. (1) The relative proportion of affected patients among blacks is apparently lower than among whites or orientals. (2) A significant excess of males was observed. (3) The frequency of DM patients who did not reproduce was similar for males and females; however, female patients had on average 25% fewer children than male patients. (4) There was a significant intergenerational increase in the mean length of the CTG repeat which was also correlated with the severity of the phenotype. (5) No significant difference was observed in the mean size of the CTG repeat in offspring of male as compared to female transmitters. (6) With the exception of the congenital cases of maternal origin, the largest expansions were paternally inherited, but did not lead to congenital DM.

Full text

PDF
14

Images in this article

16Image
on p.16
16Image
on p.16

Selected References

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

  1. Abeliovich D., Lerer I., Pashut-Lavon I., Shmueli E., Raas-Rothschild A., Frydman M. Negative expansion of the myotonic dystrophy unstable sequence. Am J Hum Genet. 1993 Jun;52(6):1175–1181. [PMC free article] [PubMed] [Google Scholar]
  2. Ashizawa T., Anvret M., Baiget M., Barceló J. M., Brunner H., Cobo A. M., Dallapiccola B., Fenwick R. G., Jr, Grandell U., Harley H. Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet. 1994 Mar;54(3):414–423. [PMC free article] [PubMed] [Google Scholar]
  3. Ashizawa T., Dubel J. R., Dunne P. W., Dunne C. J., Fu Y. H., Pizzuti A., Caskey C. T., Boerwinkle E., Perryman M. B., Epstein H. F. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology. 1992 Oct;42(10):1877–1883. doi: 10.1212/wnl.42.10.1877. [DOI] [PubMed] [Google Scholar]
  4. Aslanidis C., Jansen G., Amemiya C., Shutler G., Mahadevan M., Tsilfidis C., Chen C., Alleman J., Wormskamp N. G., Vooijs M. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature. 1992 Feb 6;355(6360):548–551. doi: 10.1038/355548a0. [DOI] [PubMed] [Google Scholar]
  5. Brook J. D., McCurrach M. E., Harley H. G., Buckler A. J., Church D., Aburatani H., Hunter K., Stanton V. P., Thirion J. P., Hudson T. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992 Feb 21;68(4):799–808. doi: 10.1016/0092-8674(92)90154-5. [DOI] [PubMed] [Google Scholar]
  6. Brunner H. G., Brüggenwirth H. T., Nillesen W., Jansen G., Hamel B. C., Hoppe R. L., de Die C. E., Höweler C. J., van Oost B. A., Wieringa B. Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am J Hum Genet. 1993 Nov;53(5):1016–1023. [PMC free article] [PubMed] [Google Scholar]
  7. Brunner H. G., Nillesen W., van Oost B. A., Jansen G., Wieringa B., Ropers H. H., Smeets H. J. Presymptomatic diagnosis of myotonic dystrophy. J Med Genet. 1992 Nov;29(11):780–784. doi: 10.1136/jmg.29.11.780. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Buxton J., Shelbourne P., Davies J., Jones C., Van Tongeren T., Aslanidis C., de Jong P., Jansen G., Anvret M., Riley B. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature. 1992 Feb 6;355(6360):547–548. doi: 10.1038/355547a0. [DOI] [PubMed] [Google Scholar]
  9. Fu Y. H., Pizzuti A., Fenwick R. G., Jr, King J., Rajnarayan S., Dunne P. W., Dubel J., Nasser G. A., Ashizawa T., de Jong P. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992 Mar 6;255(5049):1256–1258. doi: 10.1126/science.1546326. [DOI] [PubMed] [Google Scholar]
  10. Goldman A., Ramsay M., Jenkins T. Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. J Med Genet. 1994 Jan;31(1):37–40. doi: 10.1136/jmg.31.1.37. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Harley H. G., Brook J. D., Rundle S. A., Crow S., Reardon W., Buckler A. J., Harper P. S., Housman D. E., Shaw D. J. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992 Feb 6;355(6360):545–546. doi: 10.1038/355545a0. [DOI] [PubMed] [Google Scholar]
  12. Harley H. G., Rundle S. A., MacMillan J. C., Myring J., Brook J. D., Crow S., Reardon W., Fenton I., Shaw D. J., Harper P. S. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet. 1993 Jun;52(6):1164–1174. [PMC free article] [PubMed] [Google Scholar]
  13. Harley H. G., Rundle S. A., Reardon W., Myring J., Crow S., Brook J. D., Harper P. S., Shaw D. J. Unstable DNA sequence in myotonic dystrophy. Lancet. 1992 May 9;339(8802):1125–1128. doi: 10.1016/0140-6736(92)90729-m. [DOI] [PubMed] [Google Scholar]
  14. Harper P. S. Congenital myotonic dystrophy in Britain. II. Genetic basis. Arch Dis Child. 1975 Jul;50(7):514–521. doi: 10.1136/adc.50.7.514. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Hunter A. G., Jacob P., O'Hoy K., MacDonald I., Mettler G., Tsilfidis C., Korneluk R. G. Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation. Am J Med Genet. 1993 Feb 1;45(3):401–407. doi: 10.1002/ajmg.1320450330. [DOI] [PubMed] [Google Scholar]
  16. Hunter A., Tsilfidis C., Mettler G., Jacob P., Mahadevan M., Surh L., Korneluk R. The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet. 1992 Nov;29(11):774–779. doi: 10.1136/jmg.29.11.774. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Höweler C. J., Busch H. F., Geraedts J. P., Niermeijer M. F., Staal A. Anticipation in myotonic dystrophy: fact or fiction? Brain. 1989 Jun;112(Pt 3):779–797. doi: 10.1093/brain/112.3.779. [DOI] [PubMed] [Google Scholar]
  18. Lavedan C., Hofmann-Radvanyi H., Rabes J. P., Roume J., Junien C. Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy. Lancet. 1993 Jan 23;341(8839):237–237. doi: 10.1016/0140-6736(93)90097-z. [DOI] [PubMed] [Google Scholar]
  19. Mahadevan M., Tsilfidis C., Sabourin L., Shutler G., Amemiya C., Jansen G., Neville C., Narang M., Barceló J., O'Hoy K. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. 1992 Mar 6;255(5049):1253–1255. doi: 10.1126/science.1546325. [DOI] [PubMed] [Google Scholar]
  20. Mathieu J., De Braekeleer M., Prévost C. Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). Neurology. 1990 May;40(5):839–842. doi: 10.1212/wnl.40.5.839. [DOI] [PubMed] [Google Scholar]
  21. Miller S. A., Dykes D. D., Polesky H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 Feb 11;16(3):1215–1215. doi: 10.1093/nar/16.3.1215. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Mulley J. C., Staples A., Donnelly A., Gedeon A. K., Hecht B. K., Nicholson G. A., Haan E. A., Sutherland G. R. Explanation for exclusive maternal origin for congenital form of myotonic dystrophy. Lancet. 1993 Jan 23;341(8839):236–237. doi: 10.1016/0140-6736(93)90096-y. [DOI] [PubMed] [Google Scholar]
  23. Nakagawa M., Yamada H., Higuchi I., Kaminishi Y., Miki T., Johnson K., Osame M. A case of paternally inherited congenital myotonic dystrophy. J Med Genet. 1994 May;31(5):397–400. doi: 10.1136/jmg.31.5.397. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Neville C. E., Mahadevan M. S., Barceló J. M., Korneluk R. G. High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum Mol Genet. 1994 Jan;3(1):45–51. doi: 10.1093/hmg/3.1.45. [DOI] [PubMed] [Google Scholar]
  25. O'Hoy K. L., Tsilfidis C., Mahadevan M. S., Neville C. E., Barceló J., Hunter A. G., Korneluk R. G. Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science. 1993 Feb 5;259(5096):809–812. doi: 10.1126/science.8094260. [DOI] [PubMed] [Google Scholar]
  26. Redman J. B., Fenwick R. G., Jr, Fu Y. H., Pizzuti A., Caskey C. T. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA. 1993 Apr 21;269(15):1960–1965. [PubMed] [Google Scholar]
  27. Tsilfidis C., MacKenzie A. E., Mettler G., Barceló J., Korneluk R. G. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet. 1992 Jun;1(3):192–195. doi: 10.1038/ng0692-192. [DOI] [PubMed] [Google Scholar]

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

RESOURCES