Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1992 May;50(5):892–895.

Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

B Müller 1, J Melki 1, P Burlet 1, F Clerget-Darpoux 1
PMCID: PMC1682600  PMID: 1570842

Abstract

Proximal spinal muscular atrophy (SMA) is a group of progressive muscular diseases recently mapped to chromosome 5q. SMA is usually classified into types I-III, and there are cases of two types of SMA in the same sibship. Becker and others later proposed that these sibships might be due to the existence of several alleles at the same locus predisposing to the different forms of the disease. In a sample of four sibships in which both SMA type II and SMA type III occur, this hypothesis was clearly rejected for the SMA locus on 5q, by using information on the segregation of linked markers (P less than .001). Thus the difference between SMA type II and SMA type III is not due to different alleles at the SMA locus on 5q. This finding is suggestive of an involvement of other factors, genetic or environmental, in the determination of disease severity in SMA.

Full text

PDF
892

Selected References

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

  1. Abdelhak S., Melki J., Bachelot M. F., Burlet P., Sheth P., Frézal J., Munnich A. A PstI polymorphism at the D5S39 locus. Nucleic Acids Res. 1990 Sep 25;18(18):5580–5580. doi: 10.1093/nar/18.18.5580-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. BECKER P. E. ATROPHIA MUSCULORUM SPINALIS PSEUDOMYOPATHICA. HEREDITAERE NEUROGENE PROXIMALE AMYOTROPHIE VON KUGELBERG UND WELANDER. Z Mensch Vererb Konstitutionsl. 1963 Dec 17;37:193–220. [PubMed] [Google Scholar]
  3. Bouwsma G., Leschot N. J. Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis. Clin Genet. 1986 Sep;30(3):145–149. doi: 10.1111/j.1399-0004.1986.tb00586.x. [DOI] [PubMed] [Google Scholar]
  4. Brzustowicz L. M., Lehner T., Castilla L. H., Penchaszadeh G. K., Wilhelmsen K. C., Daniels R., Davies K. E., Leppert M., Ziter F., Wood D. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990 Apr 5;344(6266):540–541. doi: 10.1038/344540a0. [DOI] [PubMed] [Google Scholar]
  5. DUBOWITZ V. INFANTILE MUSCULAR ATROPHY. A PROSPECTIVE STUDY WITH PARTICULAR REFERENCE TO A SLOWLY PROGRESSIVE VARIETY. Brain. 1964 Dec;87:707–718. doi: 10.1093/brain/87.4.707. [DOI] [PubMed] [Google Scholar]
  6. Dietzsch E., Retief A. E., Lotze M. J., Warnich L., Nicholson D. L., Fox M. F., Fricke J., du Plessis L., Oosthuizen C. J. An anonymous human single copy genomic clone, D5S6 (M4) on chromosome 5 identifies a three allele RFLP. Nucleic Acids Res. 1986 Feb 25;14(4):1923–1923. doi: 10.1093/nar/14.4.1923. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Donis-Keller H., Barker D. F., Knowlton R. G., Schumm J. W., Braman J. C., Green P. Highly polymorphic RFLP probes as diagnostic tools. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 1):317–324. doi: 10.1101/sqb.1986.051.01.037. [DOI] [PubMed] [Google Scholar]
  8. Gilliam T. C., Brzustowicz L. M., Castilla L. H., Lehner T., Penchaszadeh G. K., Daniels R. J., Byth B. C., Knowles J., Hislop J. E., Shapira Y. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature. 1990 Jun 28;345(6278):823–825. doi: 10.1038/345823a0. [DOI] [PubMed] [Google Scholar]
  9. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Müller B., Clerget-Darpoux F. A test based on the exact probability distribution of the chi 2 statistic--incorporation into the MASC method. Ann Hum Genet. 1991 Jan;55(Pt 1):69–75. doi: 10.1111/j.1469-1809.1991.tb00399.x. [DOI] [PubMed] [Google Scholar]
  11. Sheth P., Abdelhak S., Bachelot M. F., Burlet P., Masset M., Hillaire D., Clerget-Darpoux F., Frézal J., Lathrop G. M., Munnich A. Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5. Am J Hum Genet. 1991 Apr;48(4):764–768. [PMC free article] [PubMed] [Google Scholar]
  12. Zerres K., Grimm T. Genetic counseling in families with spinal muscular atrophy type Kugelberg-Welander. Hum Genet. 1983;65(1):74–75. doi: 10.1007/BF00285033. [DOI] [PubMed] [Google Scholar]
  13. Zerres K., Stephan M., Kehren U., Grimm T. Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy. Clin Genet. 1987 Apr;31(4):276–277. doi: 10.1111/j.1399-0004.1987.tb02807.x. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES