{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:27:30Z","timestamp":1790879250822,"version":"4.1.0"},"reference-count":25,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,3]]},"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a common cause of inherited morbidity and mortality in childhood. The wide range of phenotypes in SMA, uncertainty regarding its mode of inheritance, and the suggestion of linkage heterogeneity have complicated the genetic counselling of parents of affected children. The locus responsible for autosomal recessive SMA has been mapped to 5q11.2-q13.3. The most likely order of loci is cen-D5S6-(SMA,D5S125)-(JK53CA1\/2,D5S112)-D5S3 9-qter, with highly polymorphic loci being identified at JK53CA1\/2 and D5S39. We describe linkage studies with another highly polymorphic locus, D5S127, that is closely linked to D5S39. This genetic map can be used as the basis for genetic counselling in families with autosomal recessive SMA. Appropriate allowance can be made for sporadic cases owing to non-inherited causes and for linkage heterogeneity or misdiagnoses.<\/jats:p>","DOI":"10.1136\/jmg.29.3.165","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"165-170","source":"Crossref","is-referenced-by-count":29,"title":["Prenatal prediction of spinal muscular atrophy."],"prefix":"10.1136","volume":"29","author":[{"given":"R J","family":"Daniels","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G K","family":"Suthers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K E","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N H","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M J","family":"Francis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C G","family":"Mathew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Loughlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Heiberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Dubowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1992,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/344540a0","article-title":"Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5ql 1.2-13.3","volume":"344","author":"Brzustowicz, L.M.; Lehner, T.; Castilla, L.H.","year":"1990","unstructured":"Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5ql 1.2-13.3. Nature 1990;344:540-1.","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/345823a0","article-title":"Genetic homogeneity between acute and chronic forms of spinal muscular atrophy","volume":"345","author":"Gilliam, T.C.; Brzustowicz, L.M.; Castilla, L.H.","year":"1990","unstructured":"Gilliam TC, Brzustowicz LM, Castilla LH, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990;345:823-5.","journal-title":"Nature"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/344767a0","article-title":"Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q","volume":"344","author":"Melki, J.; Abdelhak, S.; Sheth, P.","year":"1990","unstructured":"Melki J, Abdelhak S, Sheth P, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990;344:767-8.","journal-title":"Nature"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/0140-6736(90)91803-I","article-title":"Mapping of acute (type 1) spinal muscular atrophy to chromosome 5ql2-ql4","volume":"336","author":"Melki, J.; Sheth, P.; Abdelhak, S.","year":"1990","unstructured":"Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type 1) spinal muscular atrophy to chromosome 5ql2-ql4. Lancet 1990;336:271-3.","journal-title":"Lancet"},{"key":"ref_5","first-page":"764","article-title":"Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5","volume":"48","author":"Sheth, P.; Abdelhak, S.; Bachelot, M.F.","year":"1991","unstructured":"Sheth P, Abdelhak S, Bachelot MF, et al. Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5. Am Hum Genet 1991;48:764-8.","journal-title":"Am Hum Genet"},{"key":"ref_6","first-page":"146","article-title":"Muscle disorders in childhood","author":"Dubowitz, V.","year":"1978","unstructured":"Dubowitz V. Muscle disorders in childhood. Philadelphia: Saunders, 1978:146-78."},{"key":"ref_7","article-title":"Linkage analysis of spinal muscular atrophy","author":"Daniels, R.J.; Thomas, N.H.; MacKinnon, R.N.","unstructured":"Daniels RJ, Thomas NH, MacKinnon RN, et al. Linkage analysis of spinal muscular atrophy. Genomics (in press)."},{"key":"ref_8","article-title":"High resolution genetic map around the SMA locus chromosome 5","author":"Morrison, K.E.; Daniels, R.J.; Suthers, G.K.","unstructured":"Morrison KE, Daniels RJ, Suthers GK, et al. High resolution genetic map around the SMA locus chromosome 5. Am Hum Genet (in press).","journal-title":"Am Hum Genet"},{"key":"ref_9","article-title":"Genetics and neurology","author":"Bundey, S.","year":"1985","unstructured":"Bundey S. Genetics and neurology. Edinburgh: ChurchillLivingstone, 1985."},{"key":"ref_10","volume-title":"The genetics of neurological disorders","author":"Baraitser, M.","year":"1982","unstructured":"Baraitser M. The genetics of neurological disorders. Oxford: Oxford University Press, 1982."},{"key":"ref_11","first-page":"193","article-title":"Atrophia musculorum spinalis pseudomyopathica. Z Menschl Vererb u Konstitutionslehre","volume":"37","author":"Becker, P.E.","year":"1964","unstructured":"Becker PE. Atrophia musculorum spinalis pseudomyopathica. Z Menschl Vererb u Konstitutionslehre 1964; 37:193-220."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1399-0004.1986.tb00586.x","article-title":"Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis","volume":"30","author":"Bouwsma, G.; Leschot, N.J.","year":"1986","unstructured":"Bouwsma G, Leschot NJ. Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis. Clin Genet 1986;30: 145-9.","journal-title":"Clin Genet"},{"key":"ref_13","first-page":"238","article-title":"Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution","volume":"49","author":"Muller, B.; Clerget-Darpoux, F.","year":"1991","unstructured":"Muller B, Clerget-Darpoux F. Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution. Am Hum Genet 1991;49:238-40.","journal-title":"Am Hum Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1212\/WNL.40.12.1831","article-title":"Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5qll.2-ql3.3","volume":"40","author":"Munsat, T.L.; Skerry, L.; Korf, B.","year":"1990","unstructured":"Munsat TL, Skerry L, Korf B, et al. Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5qll.2-ql3.3. Neurology 1990;40:1831-6.","journal-title":"Neurology"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/0960-8966(91)90051-S","article-title":"Chaos in classification of the spinal muscular atrophies of childhood","volume":"1","author":"Dubowitz, V.","year":"1991","unstructured":"Dubowitz V. Chaos in classification of the spinal muscular atrophies of childhood. Neuromuscular Disorders 1991;1:77-80.","journal-title":"Neuromuscular Disorders"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/0888-7543(90)90195-Z","article-title":"Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms","volume":"7","author":"Weber, J.L.","year":"1990","unstructured":"Weber JL. Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms. Genomics 1990;7:524-30.","journal-title":"Genomics"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1159\/000132810","article-title":"Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. HGM1O","volume":"51","author":"Kidd, K.K.; Bowcock, A.M.; Schmidtke, K.","year":"1989","unstructured":"Kidd KK, Bowcock AM, Schmidtke K, et al. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. HGM1O. Cytogenet Cell Genet 1989;51:622-947.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1159\/000133027","article-title":"Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms. HGM10.5","volume":"55","author":"Williamson, R.; Bowcock, A.M.; Kidd, K.","year":"1990","unstructured":"Williamson R, Bowcock AM, Kidd K, et al. Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms. HGM10.5. Cytogenet Cell Genet 1990;55:457-778.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_19","article-title":"Two microsatellite polymorphisms at the D5S39 locus","author":"Mankoo, B.S.; Sherrington, R.; De la Concha, A.","year":"1990","unstructured":"Mankoo BS, Sherrington R, De la Concha A, et al. Two microsatellite polymorphisms at the D5S39 locus. Nucleic Acids Res 1990;19:1963.","journal-title":"Nucleic Acids Res"},{"key":"ref_20","first-page":"3443","article-title":"Strategies for multilocus linkage","volume-title":"analysis in humans. Proc Natl Acad Sci USA","volume":"81","author":"Lathrop, G.M.; Lalouel, J.M.; Julier, C.; Ott, J.","year":"1984","unstructured":"Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-6."},{"key":"ref_21","first-page":"819","article-title":"Risk calculations under heterogeneity","volume":"45","author":"Weeks, D.E.; Ott, J.","year":"1989","unstructured":"Weeks DE, Ott J. Risk calculations under heterogeneity. Am Jf Hum Genet 1989;45:819-21.","journal-title":"Am Jf Hum Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1399-0004.1991.tb02998.x","article-title":"Counselling under genetic heterogeneity","volume":"39","author":"Narod, S.","year":"1991","unstructured":"Narod S. Counselling under genetic heterogeneity. Clin Genet 1991;39:125-31.","journal-title":"Clin Genet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/BF00591085","article-title":"Genetic risk and recombination fraction - an example of non-monotonic dependency","volume":"75","author":"Krawczak, M.","year":"1987","unstructured":"Krawczak M. Genetic risk and recombination fraction - an example of non-monotonic dependency. Hum Genet 1987;75: 189-90.","journal-title":"Hum Genet"},{"key":"ref_24","first-page":"681","article-title":"Approximate confidence intervals for risk prediction in genetic counselling","volume":"38","author":"Lange, K.","year":"1986","unstructured":"Lange K. Approximate confidence intervals for risk prediction in genetic counselling. Am Hum Genet 1986;38:681-7.","journal-title":"Am Hum Genet"},{"key":"ref_25","first-page":"317","article-title":"No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers","volume":"86","author":"Kausch, K.; Muller, C.R.; Grimm, T.","year":"1991","unstructured":"Kausch K, Muller CR, Grimm T, et al. No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers. Hum Genet 1991;86:317-8.","journal-title":"Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.3.165","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:24:58Z","timestamp":1760739898000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.3.165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,3]]},"references-count":25,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1992,3,1]]},"published-print":{"date-parts":[[1992,3]]}},"alternative-id":["10.1136\/jmg.29.3.165"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.3.165","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,3]]}}}