{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:29:09Z","timestamp":1791268149691,"version":"4.1.0"},"reference-count":11,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,10]]},"abstract":"<jats:p>Tricho-dento-osseous syndrome (TDO) is characterised by a variable clinical phenotype primarily affecting the hair, teeth, and bone. Different clinical features are observed between and within TDO families. It is not known whether the variable clinical features are the result of genetic heterogeneity or clinical variability. A gene for TDO was localised recently to chromosome 17q21 in four North Carolina families, and a 4 bp deletion in the human distal-less 3 gene (DLX3) was identified in all affected members. A previous genetic linkage study in a large Virginia kindred with TDO indicated possible linkage to the ABO, Gc, and Kell blood group loci. To examine whether TDO exhibits genetic heterogeneity, we have performed molecular genetic analysis to determine whether affected members of this Virginia kindred have the DLX3 gene deletion identified in North Carolina families. Results show that affected subjects (n=3) from the Virginia family have the same four nucleotide deletion previously identified in the North Carolina families. A common haplotype for three genetic markers surrounding the DLX3 gene was identified in all affected subjects in the North Carolina and Virginia families. These findings suggest that all people with TDO who have been evaluated have inherited the same DLX3 gene deletion mutation from a common ancestor. The variable clinical phenotype observed in these North Carolina and Virginia families, which share a common gene mutation, suggests that clinical variability is not the result of genetic heterogeneity at the major locus, but may reflect genetic heterogeneity at other epigenetic loci or contributing environmental factors or both.<\/jats:p>","DOI":"10.1136\/jmg.35.10.825","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"825-828","source":"Crossref","is-referenced-by-count":79,"title":["A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families."],"prefix":"10.1136","volume":"35","author":[{"given":"J A","family":"Price","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J T","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Kula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D W","family":"Bowden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T C","family":"Hart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,10,1]]},"reference":[{"issue":"308-1","key":"ref_1","first-page":"1","article-title":"Syndrome of dental anomalies, curly hair, and sclerotic bone","volume":"7","author":"Lichtenstein, L.; Warson, R.","year":"1971","unstructured":"Lichtenstein L, Warson R. Syndrome of dental anomalies, curly hair, and sclerotic bone. Birth Defects 1971;7:308-1 1.","journal-title":"Birth Defects"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1007\/BF00327105","article-title":"Clinical heterogeneity in the tricho-dento-osseous syndrome","volume":"64","author":"Quattromani, F.L.; Shapiro, S.D.; Young, R.S.","year":"1983","unstructured":"Quattromani FL, Shapiro SD, Young RS, et al. Clinical heterogeneity in the tricho-dento-osseous syndrome. Hum Genet 1983;64:116-21.","journal-title":"Hum Genet"},{"key":"ref_3","first-page":"446","article-title":"Craniofacial morphology of the tricho-dento-osseous syndrome","volume":"50","author":"Kula, K.; Hall, K.; Hart, T.C.; Wright, J.T.","year":"1997","unstructured":"Kula K, Hall K, Hart TC, Wright JT. Craniofacial morphology of the tricho-dento-osseous syndrome. Clin Genet 1997;50:446-54.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/ajmg.1320160212","article-title":"Tricho-dento-osseous syndrome: heterogeneity or clinical variability","volume":"16","author":"Shapiro, S.D.; Quattromani, F.L.; Jorgenson, R.J.; Young, R.S.","year":"1983","unstructured":"Shapiro SD, Quattromani FL, Jorgenson RJ, Young RS. Tricho-dento-osseous syndrome: heterogeneity or clinical variability. Am JMed Genet 1983;16:225-36.","journal-title":"Am JMed Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2279","DOI":"10.1093\/hmg\/6.13.2279","article-title":"Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21","volume":"6","author":"Hart, T.C.; Bowden, D.W.; Bolyard, J.; Kula, K.; Hall, K.; Wright, J.T.","year":"1997","unstructured":"Hart TC, Bowden DW, Bolyard J, Kula K, Hall K, Wright JT. Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. Hum Mol Genet 1997;6:2279-84.","journal-title":"Hum Mol Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/hmg\/7.3.563","article-title":"Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome","volume":"7","author":"Price, J.; Bowden, D.W.; Pettenati, M.J.; Wright, J.T.; Hart, T.C.","year":"1998","unstructured":"Price J, Bowden DW, Pettenati MJ, Wright JT, Hart TC. Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum Mol Genet 1998;7:563-9.","journal-title":"Hum Mol Genet"},{"key":"ref_7","first-page":"255","article-title":"Possible linkage between the loci for the tricho-dento-osseous (TDO) syndrome and the ABO blood group system: genetic and clinical implications","volume":"10","author":"Rivas, M.L.; Lichtenstein, J.; Bias, W.B.","year":"1974","unstructured":"Rivas ML, Lichtenstein J, Bias WB. Possible linkage between the loci for the tricho-dento-osseous (TDO) syndrome and the ABO blood group system: genetic and clinical implications. Birth Defects 1974;10:255-62.","journal-title":"Birth Defects"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/(SICI)1096-8628(19971017)72:2<197::AID-AJMG14>3.0.CO;2-I","article-title":"Analysis of the tricho-dento-osseous syndrome genotype and phenotype","volume":"72","author":"Wright, J.T.; Hall, K.I.; Kula, K.; Hart, T.C.","year":"1997","unstructured":"Wright JT, Hall KI, Kula K, Hart TC. Analysis of the tricho-dento-osseous syndrome genotype and phenotype. Am Jt Med Genet 1997;72:197-204.","journal-title":"Am Jt Med Genet"},{"key":"ref_9","first-page":"569","article-title":"The tricho-dento-osseous (TDO) syndrome","volume":"24","author":"Lichtenstein, J.; Warson, R.; Jorgenson, R.; Dorst, J.P.; McKusick, V.A.","year":"1972","unstructured":"Lichtenstein J, Warson R, Jorgenson R, Dorst JP, McKusick VA. The tricho-dento-osseous (TDO) syndrome. Am J Hum Genet 1972;24:569-82.","journal-title":"Am J Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1111\/j.1399-0004.1977.tb00896.x","article-title":"Tricho-dentoosseous syndrome: a scanning electron microscopic analysis","volume":"12","author":"Melnick, M.; Sheilds, E.D.; El-Kafrawy, A.H.","year":"1977","unstructured":"Melnick M, Sheilds ED, El-Kafrawy AH. Tricho-dentoosseous syndrome: a scanning electron microscopic analysis. Clin Genet 1977;12:17-27.","journal-title":"Clin Genet"},{"key":"ref_11","article-title":"Enamel structure and composition in the tricho-dento-osseous syndrome","author":"Spangler, G.S.; Hall, K.I.; Kula, K.; Hart, T.C.; Wright, J.T.","unstructured":"Spangler GS, Hall KI, Kula K, Hart TC, Wright JT. Enamel structure and composition in the tricho-dento-osseous syndrome. 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