Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1994 Jul;31(7):518–520. doi: 10.1136/jmg.31.7.518

Paternal transmission of congenital myotonic dystrophy.

J Bergoffen 1, J Kant 1, J Sladky 1, D McDonald-McGinn 1, E H Zackai 1, K H Fischbeck 1
PMCID: PMC1049972  PMID: 7966187

Abstract

The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families.

Full text

PDF
520

Images in this article

520Image
on p.520

Selected References

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

  1. Anvret M., Ahlberg G., Grandell U., Hedberg B., Johnson K., Edström L. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet. 1993 Sep;2(9):1397–1400. doi: 10.1093/hmg/2.9.1397. [DOI] [PubMed] [Google Scholar]
  2. 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]
  3. 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]
  4. Dyken P. R., Harper P. S. Congenital dystrophia myotonica. Neurology. 1973 May;23(5):465–473. doi: 10.1212/wnl.23.5.465. [DOI] [PubMed] [Google Scholar]
  5. 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]
  6. Glånz A., Fråser F. C. Risk estimates for neonatal myotonic dystrophy. J Med Genet. 1984 Jun;21(3):186–188. [PMC free article] [PubMed] [Google Scholar]
  7. 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]
  8. Harper P. S. Congenital myotonic dystrophy in Britain. I. Clinical aspects. Arch Dis Child. 1975 Jul;50(7):505–513. doi: 10.1136/adc.50.7.505. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Harper P. S., Dyken P. R. Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor. Lancet. 1972 Jul 8;2(7767):53–55. doi: 10.1016/s0140-6736(72)91548-6. [DOI] [PubMed] [Google Scholar]
  10. Harper P. S., Harley H. G., Reardon W., Shaw D. J. Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet. 1992 Jul;51(1):10–16. [PMC free article] [PubMed] [Google Scholar]
  11. 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]
  12. Idjradinata P., Pollitt E. Reversal of developmental delays in iron-deficient anaemic infants treated with iron. Lancet. 1993 Jan 2;341(8836):1–4. doi: 10.1016/0140-6736(93)92477-b. [DOI] [PubMed] [Google Scholar]
  13. Koch M. C., Grimm T., Harley H. G., Harper P. S. Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet. 1991 Jun;48(6):1084–1091. [PMC free article] [PubMed] [Google Scholar]
  14. 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]
  15. 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]
  16. VANIER T. M. Dystrophia myotonica in childhood. Br Med J. 1960 Oct 29;2(5208):1284–1288. doi: 10.1136/bmj.2.5208.1284. [DOI] [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES