A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families

Jennifer A. Price, J. Timothy Wright, Katherine Kula, Donald W. Bowden, Thomas C. Hart

Research output: Contribution to journalArticle

66 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)825-828
Number of pages4
JournalJournal of Medical Genetics
Volume35
Issue number10
StatePublished - Oct 1 1998

Keywords

  • Distal-less gene (DLX)
  • Homeobox
  • Tricho-dento-osseous syndrome (TDO)
  • Variable expression

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Price, J. A., Wright, J. T., Kula, K., Bowden, D. W., & Hart, T. C. (1998). A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families. Journal of Medical Genetics, 35(10), 825-828.