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. 1994 Mar;31(3):242–244. doi: 10.1136/jmg.31.3.242

Apparent SMA I unlinked to 5q.

J M Cobben 1, H Scheffer 1, M de Visser 1, J H Begeer 1, W M Molenaar 1, G van der Steege 1, C H Buys 1, G J van Ommen 1, L P Ten Kate 1
PMCID: PMC1049751  PMID: 8014975

Abstract

A proband with a clinical picture indistinguishable from SMA type I is described. The parents are second cousins. On DNA analysis it appeared that the proband and his healthy 2 year old sib had inherited the same haplotypes for DNA markers flanking the SMA locus on 5q. This supports non-linkage of SMA to chromosome 5q in this family. The consanguinity of the parents raises the possibility of a second locus for autosomal recessive SMA type I outside the 5q12-13 region. This may have implications for genetic counselling after prenatal diagnosis in consanguineous families. Furthermore, this case illustrates the importance of the inclusion of all healthy sibs in prenatal DNA studies for SMA type I.

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Selected References

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  1. 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]
  2. Cobben J. M., Scheffer H., De Visser M., Osinga J., Frants R., van der Steege G., Wijmenga C., ten Kate L. P., van Ommen G. J., Buys C. H. Linkage and apparent heterogeneity in proximal spinal muscular atrophies. Neuromuscul Disord. 1993 Jul;3(4):327–333. doi: 10.1016/0960-8966(93)90026-g. [DOI] [PubMed] [Google Scholar]
  3. Cobben J. M., de Visser M., Scheffer H., Osinga J., van der Steege G., Buys C. H., van Ommen G. J., ten Kate L. P. Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I. J Neurol Neurosurg Psychiatry. 1993 Mar;56(3):319–321. doi: 10.1136/jnnp.56.3.319. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Daniels R. J., Suthers G. K., Morrison K. E., Thomas N. H., Francis M. J., Mathew C. G., Loughlin S., Heiberg A., Wood D., Dubowitz V. Prenatal prediction of spinal muscular atrophy. J Med Genet. 1992 Mar;29(3):165–170. doi: 10.1136/jmg.29.3.165. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. 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]
  6. Greenberg F., Fenolio K. R., Hejtmancik J. F., Armstrong D., Willis J. K., Shapira E., Huntington H. W., Haun R. L. X-linked infantile spinal muscular atrophy. Am J Dis Child. 1988 Feb;142(2):217–219. doi: 10.1001/archpedi.1988.02150020119045. [DOI] [PubMed] [Google Scholar]
  7. Hudson T. J., Engelstein M., Lee M. K., Ho E. C., Rubenfield M. J., Adams C. P., Housman D. E., Dracopoli N. C. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics. 1992 Jul;13(3):622–629. doi: 10.1016/0888-7543(92)90133-d. [DOI] [PubMed] [Google Scholar]
  8. Kidd K. K., Bowcock A. M., Schmidtke J., Track R. K., Ricciuti F., Hutchings G., Bale A., Pearson P., Willard H. F., Gelernter J. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet. 1989;51(1-4):622–947. doi: 10.1159/000132810. [DOI] [PubMed] [Google Scholar]
  9. Melki J., Abdelhak S., Burlet P., Raclin V., Kaplan J., Spiegel R., Gilgenkrantz S., Philip N., Chauvet M. L., Dumez Y. Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. J Med Genet. 1992 Mar;29(3):171–174. doi: 10.1136/jmg.29.3.171. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Melki J., Abdelhak S., Sheth P., Bachelot M. F., Burlet P., Marcadet A., Aicardi J., Barois A., Carriere J. P., Fardeau M. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 1990 Apr 19;344(6268):767–768. doi: 10.1038/344767a0. [DOI] [PubMed] [Google Scholar]
  11. Melki J., Sheth P., Abdelhak S., Burlet P., Bachelot M. F., Lathrop M. G., Frezal J., Munnich A. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet. 1990 Aug 4;336(8710):271–273. doi: 10.1016/0140-6736(90)91803-i. [DOI] [PubMed] [Google Scholar]
  12. Morrison K. E., Daniels R. J., Suthers G. K., Flynn G. A., Francis M. J., Buckle V. J., Davies K. E. High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5. Am J Hum Genet. 1992 Mar;50(3):520–527. [PMC free article] [PubMed] [Google Scholar]
  13. Pearn J. H. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England. J Med Genet. 1973 Sep;10(3):260–265. doi: 10.1136/jmg.10.3.260. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Sherrington R., Melmer G., Dixon M., Curtis D., Mankoo B., Kalsi G., Gurling H. Linkage disequilibrium between two highly polymorphic microsatellites. Am J Hum Genet. 1991 Nov;49(5):966–971. [PMC free article] [PubMed] [Google Scholar]
  15. Simard L. R., Vanasse M., Rochette C., Morgan K., Lemieux B., Melançon S. B., Labuda D. Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families. Genomics. 1992 Sep;14(1):188–190. doi: 10.1016/s0888-7543(05)80305-2. [DOI] [PubMed] [Google Scholar]
  16. Soares V. M., Brzustowicz L. M., Kleyn P. W., Knowles J. A., Palmer D. A., Asokan S., Penchaszadeh G. K., Munsat T. L., Gilliam T. C. Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B. Genomics. 1993 Feb;15(2):365–371. doi: 10.1006/geno.1993.1069. [DOI] [PubMed] [Google Scholar]
  17. Winsor E. J., Murphy E. G., Thompson M. W., Reed T. E. Genetics of childhood spinal muscular atrophy. J Med Genet. 1971 Jun;8(2):143–148. doi: 10.1136/jmg.8.2.143. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Zerres K., Rudnik-Schöneborn S., Rietschel M. Heterogeneity in proximal spinal muscular atrophy. Lancet. 1990 Sep 22;336(8717):749–750. doi: 10.1016/0140-6736(90)92243-b. [DOI] [PubMed] [Google Scholar]

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