Journal Article

Genetic Linkage of the Tricho-Dento-Osseous Syndrome to Chromosome 17q21

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

in Human Molecular Genetics

Volume 6, issue 13, pages 2279-2284
Published in print December 1997 | ISSN: 0964-6906
Published online December 1997 | e-ISSN: 1460-2083 | DOI:
Genetic Linkage of the Tricho-Dento-Osseous Syndrome to Chromosome 17q21

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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, Zmax = 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.

Journal Article.  3784 words.  Illustrated.

Subjects: Genetics and Genomics

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