{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:33Z","timestamp":1791279933804,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,8]]},"abstract":"<jats:p>We report a child with clinical findings consistent with Werdnig-Hoffmann disease (spinal muscular atrophy type I) who was found not to have the homozygous absence of the survival motor neurone (SMN(T)) gene observed in approximately 95% of spinal muscular atrophy patients. A quantitative PCR based dosage assay for SMN(T) copy number showed that this patient possessed a single copy of the SMN(T) gene. Heteroduplex and sequence analysis of the remaining copy of SMN(T) showed a 2 base pair deletion within exon 4 which produces a frameshift and premature termination of the deduced SMN(T) protein. This protocol of initial SMN(T) gene dosage analysis followed by mutation detection allows identification of SMA compound heterozygotes (patients lacking one copy of SMN(T) and having another mutation in their other copy), thereby increasing the sensitivity of SMA molecular diagnosis.<\/jats:p>","DOI":"10.1136\/jmg.35.8.674","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"674-676","source":"Crossref","is-referenced-by-count":27,"title":["Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis."],"prefix":"10.1136","volume":"35","author":[{"given":"D W","family":"Parsons","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P E","family":"McAndrew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P S","family":"Allinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"W D","family":"Parker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A H","family":"Burghes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T W","family":"Prior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/S0140-6736(80)90847-8","article-title":"Classification of spinal muscular atrophies","volume":"i:","author":"Pearn, J.","year":"1980","unstructured":"Pearn J. Classification of spinal muscular atrophies. Lancet 1980;i:919-22.","journal-title":"Lancet"},{"key":"ref_2","first-page":"423","article-title":"Meeting report. International SMA Consortium meeting","volume":"2","author":"Munsat, T.L.; Davies, K.E.","year":"1992","unstructured":"Munsat TL, Davies KE. Meeting report. International SMA Consortium meeting. Neuromusc Disord 1992;2:423-8.","journal-title":"Neuromusc Disord"},{"key":"ref_3","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_4","first-page":"16778","article-title":"The gene for neuronal apoptosis inhibitory protein 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 neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80: 16778.","journal-title":"Cell"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/ng0195-56","article-title":"A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients","volume":"9","author":"Thompson, T.G.; DiDonato, C.J.; Simard, L.R.","year":"1995","unstructured":"Thompson TG, DiDonato CJ, Simard LR, et al. A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. 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Nat Genet 1995;11:335-7.","journal-title":"Nat Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1093\/hmg\/5.11.1727","article-title":"An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMN-determining gene","volume":"5","author":"Parsons, D.W.; McAndrew, P.E.; Monani, U.R.; Mendell, JR, Burghes; AHM, Prior; T.W.","year":"1996","unstructured":"Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AHM, Prior TW. An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMN-determining gene. Hum Mol Genet 1996;5: 1727-32.","journal-title":"Hum Mol Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1093\/hmg\/5.12.1971","article-title":"Frameshift mutation in the survival motor neuron gene in a severe case of SMA type","volume":"5","year":"1996","unstructured":"Brahe C, Clermont 0, Zappata S, Tiziano F, Melki J, Neri G. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 1996;5:1971-6.","journal-title":"I. Hum Mol Genet"},{"key":"ref_9","article-title":"A novel point mutation in the SMN gene in a patient with type III spinal muscular atrophy. First Congress of the World Muscle Society 1996","author":"Burglen, L.; Patel, S.; Dubowitz, V.; Melki, J.; Muntoni, F.","unstructured":"Burglen L, Patel S, Dubowitz V, Melki J, Muntoni F. A novel point mutation in the SMN gene in a patient with type III spinal muscular atrophy. First Congress of the World Muscle Society 1996. London: Elsevier, 1996:S39."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1086\/515465","article-title":"Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMN\"' and SMN'","volume":"60","author":"McAndrew, P.E.; Parsons, D.W.; Simard, L.R.","year":"1997","unstructured":"McAndrew PE, Parsons DW, Simard LR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMN\"' and SMN' gene copy number. Am _t Hum Genet 1997;60:1411-22.","journal-title":"gene copy number. Am _t Hum Genet"},{"key":"ref_11","first-page":"497500","article-title":"Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?","volume":"6","author":"Talbot, K.; Ponting, C.P.; Theodosiou, A.M.","year":"1997","unstructured":"Talbot K, Ponting CP, Theodosiou AM, et al. Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum Mol Genet 1997;6:497500.","journal-title":"Hum Mol Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1093\/hmg\/6.5.821","article-title":"Missense mutations in exon 6 of the survival motor neuron gene in patient with spinal muscular atrophy (SMA)","volume":"6","author":"Hahnen, E.; Schonling, J.; Rudnik-Schoneborn, S.; Raschke, H.; Zerres, K.; Wirth, B.","year":"1997","unstructured":"Hahnen E, Schonling J, Rudnik-Schoneborn S, Raschke H, Zerres K, Wirth B. Missense mutations in exon 6 of the survival motor neuron gene in patient with spinal muscular atrophy (SMA). 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Neurogenetics (in press)."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.8.674","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:45:52Z","timestamp":1760766352000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.8.674"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,8]]},"references-count":13,"journal-issue":{"issue":"8","published-online":{"date-parts":[[1998,8,1]]},"published-print":{"date-parts":[[1998,8]]}},"alternative-id":["10.1136\/jmg.35.8.674"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.8.674","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,8]]}}}