{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:30:15Z","timestamp":1790487015397,"version":"4.1.0"},"reference-count":9,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,6]]},"abstract":"<jats:p>All three types of autosomal recessive spinal muscular atrophy map to chromosome 5q11.2-q13.3 and are associated with deletions or mutations of the SMN (survival motor neurone) gene. The availability of a test to distinguish between the SMN gene and its nearly identical centromeric copy cBCD541 allows molecular diagnosis. We have analysed patients from 24 Belgian and 34 Turkish families for the presence or absence of a deletion in the SMN gene. A homozygous deletion in the SMN gene was seen in 90% of unrelated SMA patients. A non-radioactive SSCP assay allows for a semiquantitative analysis of the copy number of the centromeric and SMN genes. Hence, direct carrier detection has become feasible under certain conditions. We observed a phenotypically normal male, father of an SMA type I patient, presenting with only a single copy of the SMN gene and lacking both copies of the cBCD541 gene. This illustrates that a reduction of the total number of SMN and cBCD541 genes to a single SMN copy is compatible with normal life. In another SMA type I family, there is evidence for a de novo deletion of the centromeric gene in a normal sib. This observation illustrates the susceptibility of the SMA locus to de novo deletions and rearrangements.<\/jats:p>","DOI":"10.1136\/jmg.33.6.469","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"469-474","source":"Crossref","is-referenced-by-count":32,"title":["Unusual molecular findings in autosomal recessive spinal muscular atrophy."],"prefix":"10.1136","volume":"33","author":[{"given":"G","family":"Matthijs","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Schollen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Legius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Goemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Y","family":"Ap\u00e4k","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J J","family":"Cassiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1136\/jmg.26.12.761","article-title":"A Hungarian study on WerdnigHoffmann disease","volume":"26","author":"Czeizel, A.; Hamula, J.","year":"1989","unstructured":"Czeizel A, Hamula J. A Hungarian study on WerdnigHoffmann disease. J Med Genet 1989;26:761-3.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre, S.; Burglen, L.; Reboullet, S.","year":"1995","unstructured":"Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0092-8674(95)90461-1","article-title":"The gene for NAIP, a novel protein with homology to baculoviral inhibitors of apoptosis, is partially deleted in individuals with spinal muscular atrophy","volume":"80","author":"Roy, N.; Mahadevan, M.S.; McLean, M.","year":"1995","unstructured":"Roy N, Mahadevan MS, McLean M, et al. The gene for NAIP, a novel protein with homology to baculoviral inhibitors of apoptosis, is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167-78.","journal-title":"Cell"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1006\/geno.1993.1069","article-title":"Refinement of the spinal muscular atrophy locus to an interval between D5S435 and MAP-lB","volume":"15","author":"Soares, V.M.; Brzustowicz, L.M.; Kleyn, P.W.","year":"1993","unstructured":"Soares VM, Brzustowicz LM, Kleyn PW, et al. Refinement of the spinal muscular atrophy locus to an interval between D5S435 and MAP-lB. Genomics 1993;15:365-71.","journal-title":"Genomics"},{"key":"ref_5","first-page":"7873","article-title":"Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus","volume-title":"5q1 3. Proc Natl Acad Sci","volume":"88","author":"Lien, L.L.; Boyce, F.M.; Kleyn, P.","year":"1991","unstructured":"Lien LL, Boyce FM, Kleyn P, et al. Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q1 3. Proc Natl Acad Sci USA 1991;88:7873-6."},{"key":"ref_6","first-page":"687","article-title":"Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers","volume":"54","author":"Clermont 0, Burlet P, Burglen L","year":"1994","unstructured":"Clermont 0, Burlet P, Burglen L, et al. Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers. Am J Hum Genet 1994;54:687-94.","journal-title":"Am J Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1093\/hmg\/4.4.631","article-title":"Deletions in the survival motor neuron gene on 5ql 3 in autosomal recessive spinal muscular atrophy","volume":"4","year":"1995","unstructured":"Rodrigues NR, Owen 0, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5ql 3 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995;4:631-4.","journal-title":"Hum Mol Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1016\/S0140-6736(95)90787-4","article-title":"Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis","volume":"345","year":"1995","unstructured":"Rodrigues NR, Campbell L, Owen 0, Rodeck CH, Davies KE. Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis. Lancet 1995;345:1049.","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/S0140-6736(95)92206-7","article-title":"SMN gene deletion in variant of infantile spinal muscular atrophy","volume":"346","author":"Burglen, L.; Spiegel, R.; Ignatius, J.","year":"1995","unstructured":"Burglen L, Spiegel R, Ignatius J, et al. SMN gene deletion in variant of infantile spinal muscular atrophy. Lancet 1995;346:316-7.","journal-title":"Lancet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.6.469","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:22:59Z","timestamp":1759724579000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.6.469"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,6]]},"references-count":9,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1996,6,1]]},"published-print":{"date-parts":[[1996,6]]}},"alternative-id":["10.1136\/jmg.33.6.469"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.6.469","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,6]]}}}