{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T08:46:00Z","timestamp":1792053960126,"version":"4.4.0"},"reference-count":32,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:p>Scheuermann juvenile kyphosis or Scheuermann disease is the most frequent cause of kyphosis in adolescence. However, the natural history and genetic basis is still unknown. Reports of identical radiological changes in monozygotic twins, sib recurrence, and transmission over three generations suggest underlying heritability. In this study, 12 probands were referred to us. Upon radiological examination of the proband's parents and sibs, seven were shown to have familial Scheuermann disease with an autosomal dominant pattern of inheritance. Of the remaining five probands, four had chromosomal anomalies. The three largest pedigrees were subjected to linkage analysis with three candidate genes: Duffy, COL1A1, and COL1A2. Linkage of Scheuermann disease was excluded with Duffy (lod score = -2.195 at theta = 0.10) and COL1A2 (lod score = -2.750 at theta = 0.05) in these families.<\/jats:p>","DOI":"10.1136\/jmg.29.1.41","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"41-45","source":"Crossref","is-referenced-by-count":54,"title":["Familial Scheuermann disease: a genetic and linkage study."],"prefix":"10.1136","volume":"29","author":[{"given":"L","family":"McKenzie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Sillence","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1992,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/j.1651-2227.1987.tb10429.x","article-title":"Two hereditary spinal diseases producing kyphosis during adolescence","volume":"76","author":"Nielsen, O.G.; Pilgaard, P.","year":"1987","unstructured":"Nielsen OG, Pilgaard P. Two hereditary spinal diseases producing kyphosis during adolescence. Acta Paediatr Scand 1987;76:133-6.","journal-title":"Acta Paediatr Scand"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1136\/jmg.26.6.400","article-title":"Dominant inheritance of Scheuermann's juvenile kyphosis","volume":"26","author":"Findlay, A.; Conner, A.N.; Connor, J.M.","year":"1989","unstructured":"Findlay A, Conner AN, Connor JM. Dominant inheritance of Scheuermann's juvenile kyphosis. J Med Genet 1989;26:400-3.","journal-title":"J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"598","DOI":"10.2214\/ajr.134.3.598","article-title":"Juvenile kyphosis in identical twins","volume":"134","author":"Bjersand, A.J.","year":"1980","unstructured":"Bjersand AJ. Juvenile kyphosis in identical twins. AJR 1980;134:598-9.","journal-title":"AJR"},{"key":"ref_4","first-page":"391","article-title":"Scheuermann's kyphoscoliosis associated with Charcot-MarieTooth syndrome","volume":"57","author":"Kelwalaramani, L.S.; Riggins, R.S.; Fowler, W.M.","year":"1976","unstructured":"Kelwalaramani LS, Riggins RS, Fowler WM. Scheuermann's kyphoscoliosis associated with Charcot-MarieTooth syndrome. Arch Phys Med Rehab 1976;57:391-7.","journal-title":"Arch Phys Med Rehab"},{"key":"ref_5","first-page":"1105","article-title":"Dominant inheritance of Scheuermann's juvenile kyphosis","volume":"132","author":"Halal, F.; Gledhill, R.B.; Fraser, F.C.","year":"1978","unstructured":"Halal F, Gledhill RB, Fraser FC. Dominant inheritance of Scheuermann's juvenile kyphosis. Am J Dis Child 1978;132:1105-7.","journal-title":"Am J Dis Child"},{"key":"ref_6","first-page":"163","article-title":"A Scheuermannbetegseg oroklodese","volume":"29","author":"Arpad, B.; Sandor, F.; Gyorgy, M.; Gyorgy, S.; Erzsebet, G.","year":"1986","unstructured":"Arpad B, Sandor F, Gyorgy M, Gyorgy S, Erzsebet G. A Scheuermannbetegseg oroklodese. Magyar Traumatol 1986;29: 163-7.","journal-title":"Magyar Traumatol"},{"key":"ref_7","first-page":"388","article-title":"Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1","volume":"34","author":"Giblett, E.R.","year":"1982","unstructured":"Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet 1982;34:388-94.","journal-title":"Am J Hum Genet"},{"key":"ref_8","first-page":"669","article-title":"Evidence for linkage of the type 1 hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1. JNeurol Neurosurg","volume":"45","author":"Guiloff, R.J.; Thomas, P.K.; Contreras, J.; Armitage, S.; Schwartz, G.; Sedgwick, E.M.","year":"1982","unstructured":"Guiloff RJ, Thomas PK, Contreras J, Armitage S, Schwartz G, Sedgwick EM. Evidence for linkage of the type 1 hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1. JNeurol Neurosurg Psychiatry 1982;45:669-74.","journal-title":"Psychiatry"},{"key":"ref_9","first-page":"195","article-title":"Linkage of dominantly inherited Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1","volume":"34","author":"Stebbins, N.B.; Conneally, P.M.","year":"1982","unstructured":"Stebbins NB, Conneally PM. Linkage of dominantly inherited Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. 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Clin Orthop Rel Res 1981;154:166-74.","journal-title":"Clin Orthop Rel Res"},{"key":"ref_12","first-page":"6045","article-title":"Lethal osteogenesis imperfecta resulting from a single nucleotide change","volume-title":"one human proal(I) collagen allele. Proc Natl Acad Sci","volume":"83","author":"Cohn, D.H.; Byers, P.H.; Steinmann, B.; Gelinas, R.E.","year":"1986","unstructured":"Cohn DH, Byers PH, Steinmann B, Gelinas RE. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human proal(I) collagen allele. Proc Natl Acad Sci USA 1986;83:6045-7."},{"key":"ref_13","first-page":"237","article-title":"Perinatal lethal osteogenesis imperfecta (01 type II): biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen","volume":"42","author":"Byers, P.H.; Tsipouras, P.; Bonadio, J.F.; Starman, B.J.; Schwartz, R.C.","year":"1988","unstructured":"Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC. Perinatal lethal osteogenesis imperfecta (01 type II): biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am I Hum Genet 1988;42:237-48.","journal-title":"Am I Hum Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1136\/jmg.27.4.228","article-title":"The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the proal(I) chain of type I procollagen","volume":"27","author":"Cole, W.G.; Chow, C.W.; Rogers, J.G.; Bateman, J.F.","year":"1990","unstructured":"Cole WG, Chow CW, Rogers JG, Bateman JF. The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the proal(I) chain of type I procollagen. J Med Genet 1990;27:228-35.","journal-title":"J Med Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1002\/j.1460-2075.1989.tb03562.x","article-title":"A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII","volume":"8","author":"Weil, D.; D'Alessio, M.; Ramirez, F.","year":"1989","unstructured":"Weil D, D'Alessio M, Ramirez F, et al. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. 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Use of molecular haplotypes specific for the human proa2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta. Am Hum Genet 1986;38:269-79.","journal-title":"Am Hum Genet"},{"key":"ref_22","first-page":"588","article-title":"Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies","volume":"26","author":"Ott, J.","year":"1974","unstructured":"Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. AmIHum Genet 1974;26:588-97.","journal-title":"AmIHum Genet"},{"key":"ref_23","article-title":"Scheuermann's juvenile kyphosis","author":"Sorensen, K.H.","year":"1964","unstructured":"Sorensen KH. Scheuermann's juvenile kyphosis. Copenhagen: Munksgaard, 1964."},{"key":"ref_24","article-title":"In choroba Schevermanna: kyphosis dorsijuvenilis","author":"Marciniak, R.","year":"1979","unstructured":"Marciniak R. In choroba Schevermanna: kyphosis dorsijuvenilis. Wroclaw: Ossolinevur, 1979."},{"key":"ref_25","first-page":"83","article-title":"Scheuermann's kyphosis: a form of osteoporosis?","volume":"118","author":"Bradford, D.S.; Brown, D.M.; Moe, J.H.; Winter, R.B.; Jowsey, J.","year":"1976","unstructured":"Bradford DS, Brown DM, Moe JH, Winter RB, Jowsey J. Scheuermann's kyphosis: a form of osteoporosis? Clin Orthop Rel Res 1976;118:83-90.","journal-title":"Clin Orthop Rel Res"},{"key":"ref_26","first-page":"83","article-title":"Vertebral osteochondrosis. Clin Orthop Rel Res","volume":"158","author":"Bradford, D.S.","year":"1981","unstructured":"Bradford DS. Vertebral osteochondrosis. Clin Orthop Rel Res 1981;158:83-90."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1302\/0301-620X.64B4.7096412","article-title":"Acute spinal cord compression in Scheuermann's disease","volume":"64","author":"Ryan, M.D.; Taylor, T.K.F.","year":"1982","unstructured":"Ryan MD, Taylor TKF. Acute spinal cord compression in Scheuermann's disease. Bone Joint Surg [Br] 1982;64:409-12.","journal-title":"Bone Joint Surg [Br]"},{"key":"ref_28","first-page":"55","article-title":"The incidence of morbus Scheuermann in sportsmen","volume":"26","year":"1986","unstructured":"Blazek 0, Streda A, Cernak V, Skallova 0. The incidence of morbus Scheuermann in sportsmen. Sports Med 1986;26:55-9.","journal-title":"Sports Med"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"740","DOI":"10.2106\/00004623-197456040-00009","article-title":"Scheuermann's kyphosis and roundback deformity","volume":"56","author":"Bradford, D.S.; Moe, J.H.; Montalvo, F.J.; Winter, R.B.","year":"1974","unstructured":"Bradford DS, Moe JH, Montalvo FJ, Winter RB. Scheuermann's kyphosis and roundback deformity. Bone Joint Surg [Am] 1974;56:740-58.","journal-title":"Bone Joint Surg [Am]"},{"key":"ref_30","first-page":"756","article-title":"Chromosome 1 linkage studies in Charcot-Marie-Tooth neuropathy type 1","volume":"42","author":"Griffiths, L.R.; Zwi, M.B.; McLeod, J.G.; Nicholson, G.A.","year":"1988","unstructured":"Griffiths LR, Zwi MB, McLeod JG, Nicholson GA. Chromosome 1 linkage studies in Charcot-Marie-Tooth neuropathy type 1. Am Hum Genet 1988;42:756-71.","journal-title":"Am Hum Genet"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/S0014-4886(89)80013-5","article-title":"Linkage of Charcot-Marie-Tooth neuropathy la to chromosome 17","volume":"104","author":"Vance, J.M.; Nicholson, G.A.; Yanaoka, L.H.","year":"1989","unstructured":"Vance JM, Nicholson GA, Yanaoka LH, et al. Linkage of Charcot-Marie-Tooth neuropathy la to chromosome 17. Exp Neurol 1989;104:186-9.","journal-title":"Exp Neurol"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/BF00417219","article-title":"Endokrine storungen und morbus Scheuermann","volume":"65","author":"Muller, G.; Gschwend, N.","year":"1969","unstructured":"Muller G, Gschwend N. Endokrine storungen und morbus Scheuermann. Arch Orthop Unfall-Chir 1969;65: 357-62.","journal-title":"Arch Orthop Unfall-Chir"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.1.41","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:08:18Z","timestamp":1760767698000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.1.41"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1]]},"references-count":32,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1992,1,1]]},"published-print":{"date-parts":[[1992,1]]}},"alternative-id":["10.1136\/jmg.29.1.41"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.1.41","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1]]}}}