Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21

Thomas C. Hart, Donald W. Bowden, Joey Bolyard, Katherine Kula, Kathie Hall, John T. Wright

Research output: Contribution to journalArticle

33 Citations (Scopus)

Abstract

Tricho-dento-osseous syndrome (TDO), MIM 190320, is transmitted as a highly penetrant autosomal dominant trait that is characterized by variable clinical expression. The principal clinical features include kinky/curly hair in infancy, enamel hypoplasia, taurodontism, as well as increased thickness and density of cranial bones. Possible genetic linkage has been reported for TDO with the ABO blood group locus, but the gene defect remains unknown. We have identified four multiplex families (n = 63, 39 affected, 24 unaffected) from North Carolina segregating TDO. We previously have excluded a major locus for TDO in the ABO region for these families, Utilizing a genome-wide search strategy, we obtained conclusive evidence for linkage of the TDO syndrome locus to markers on chromosome 17q21 (D17S791, Z(max) = 10.54, Θ = 0.00) with no indication of genetic heterogeneity. Multipoint analysis suggests the TDO locus is located in a 7 cM chromosomal segment flanked by D17S932 and D17S941. This finding represents the first step towards isolation and cloning of the TDO gene. Identification of this gene has important implications for understanding normal and abnormal craniofacial development of hair, teeth and bone.

Original languageEnglish (US)
Pages (from-to)2279-2284
Number of pages6
JournalHuman Molecular Genetics
Volume6
Issue number13
StatePublished - Dec 1997
Externally publishedYes

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Genetic Linkage
Chromosomes
Dental Enamel Hypoplasia
Genes
Genetic Heterogeneity
Phentolamine
Blood Group Antigens
Tricho-dento-osseous syndrome
Genetic Markers
Bone Density
Organism Cloning
Tooth
Genome
Bone and Bones

ASJC Scopus subject areas

  • Genetics

Cite this

Hart, T. C., Bowden, D. W., Bolyard, J., Kula, K., Hall, K., & Wright, J. T. (1997). Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. Human Molecular Genetics, 6(13), 2279-2284.

Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. / Hart, Thomas C.; Bowden, Donald W.; Bolyard, Joey; Kula, Katherine; Hall, Kathie; Wright, John T.

In: Human Molecular Genetics, Vol. 6, No. 13, 12.1997, p. 2279-2284.

Research output: Contribution to journalArticle

Hart, TC, Bowden, DW, Bolyard, J, Kula, K, Hall, K & Wright, JT 1997, 'Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21', Human Molecular Genetics, vol. 6, no. 13, pp. 2279-2284.
Hart TC, Bowden DW, Bolyard J, Kula K, Hall K, Wright JT. Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. Human Molecular Genetics. 1997 Dec;6(13):2279-2284.
Hart, Thomas C. ; Bowden, Donald W. ; Bolyard, Joey ; Kula, Katherine ; Hall, Kathie ; Wright, John T. / Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. In: Human Molecular Genetics. 1997 ; Vol. 6, No. 13. pp. 2279-2284.
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