Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter
  • Published:

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

Abstract

PROXIMAL spinal muscular atrophies represent the second most common fatal, autosomal recessive disorder after cystic fibrosis1. The childhood form is classically subdivided into three groups: acute Werdnig-Hoffmann (type I), intermediate Werdnig-Hoffmann disease (type II) and Kugelberg-Welander disease (type III). These different clinical forms have previously been attributed to either genetic heterogeneity or variable expression of different mutations at the same locus2. Research has been hindered because the underlying biochemical defect is unknown, and there are insufficient large pedigrees with the most common and severe form (type I) available for study. Therefore, we have undertaken a genetic linkage analysis of the chronic forms of the disease (types II and III) as an initial step towards the ultimate goal of characterizing the gene(s) responsible for all three types. We report here the assignment of the locus for the chronic forms to the long arm of chromosome 5 (5q 12–ql4), with the anonymous DNA marker D5S39, in 24 multiplex families of distinct ethnic origin. Furthermore, no evidence for genetic heterogeneity was found for types II and III in our study, suggesting that these two forms are allelic disorders.

This is a preview of subscription content, access via your institution

Access options

Rent or buy this article

Prices vary by article type

from$1.95

to$39.95

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Pearn, J. Lancet i, 919–922 (1980).

    Article  Google Scholar 

  2. Emery, A. E. H. J. med. Genet. 8, 481–495 (1971).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Hausmanowa-Petrusewicz, I., Zaremba, J. A. & Borkowska, J. J. med. Genet. 22, 350–353 (1985).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Dubowtiz, V. Brain 87, 707–718 (1964).

    Article  Google Scholar 

  5. Morton, N. E. Am. J. hum. Genet. 7, 277–318 (1955).

    CAS  PubMed  PubMed Central  Google Scholar 

  6. Leppert, M. et al. Cytogenet. Cell Genet. 46, 649 (1987).

    Google Scholar 

  7. Lathrop, G. M., Lalouel, J. M., Julier, C. & Ott, J. Proc. natn. Acad. Sci. U.S.A. 81, 3443–3446 (1984).

    Article  ADS  CAS  Google Scholar 

  8. Duchen, L. W., Falconer, D. S. & Strich, S. J. J. Physiol., Lond. 183, 53–55 (1966).

    Google Scholar 

  9. Murakami, T., Mastaglia, F. L., Mann, D. M. A. & Bradley, W. G. Muscle & Nerve 4, 407–412 (1981).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Melki, J., Abdelhak, S., Sheth, P. et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344, 767–768 (1990). https://doi.org/10.1038/344767a0

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/344767a0

This article is cited by

Comments

By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing