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.
Copyright 2004 Wiley-Liss, Inc.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Anodontia / diagnostic imaging
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Anodontia / genetics*
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Base Sequence
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Cleft Lip / genetics
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Cleft Palate / genetics
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DNA Mutational Analysis
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Female
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Genes, Dominant
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Genetic Linkage
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Homeodomain Proteins / genetics*
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Humans
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MSX1 Transcription Factor
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Male
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Mutation*
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Radiography
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Sequence Analysis
Substances
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Homeodomain Proteins
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MSX1 Transcription Factor
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MSX1 protein, human