A novel MSX1 mutation in hypodontia

Am J Med Genet A. 2004 Aug 1;128A(4):401-3. doi: 10.1002/ajmg.a.30181.

Abstract

MSX1 mutations have been reported in four unrelated families with autosomal dominant tooth agenesis. In one family, some individuals also had cleft lip and/or palate. We have identified a novel MSX1 mutation (559 C --> T, resulting in Gln187Stop) in three individuals of one family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anodontia / diagnostic imaging
  • Anodontia / genetics*
  • Base Sequence
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Homeodomain Proteins / genetics*
  • Humans
  • MSX1 Transcription Factor
  • Male
  • Mutation*
  • Radiography
  • Sequence Analysis

Substances

  • Homeodomain Proteins
  • MSX1 Transcription Factor
  • MSX1 protein, human