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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2004-12-23
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pubmed:abstractText |
Tooth development is under strict genetic control. Oligodontia is defined as the congenital absence of 6 or more permanent teeth, excluding the third molar. The occurrence of non-syndromic oligodontia is poorly understood, but in recent years several cases have been described where a single gene mutation is associated with oligodontia. Several studies have shown that MSX1 and PAX9 play a role in early tooth development. We screened one family with non-syndromic oligodontia for mutations in MSX1 and PAX9. The pedigree showed an autosomal-dominant pattern of inheritance. Direct sequencing and restriction enzyme analysis revealed a novel heterozygous A to G transition mutation in the AUG initiation codon of PAX9 in exon 1 in the affected members of the family. This is the first mutation found in the initiation codon of PAX9, and we suggest that it causes haploinsufficiency.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
D
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Codon, Initiator,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/MSX1 Transcription Factor,
http://linkedlifedata.com/resource/pubmed/chemical/MSX1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/PAX9 Transcription Factor,
http://linkedlifedata.com/resource/pubmed/chemical/PAX9 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0022-0345
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
84
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
43-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15615874-Adolescent,
pubmed-meshheading:15615874-Adult,
pubmed-meshheading:15615874-Anodontia,
pubmed-meshheading:15615874-Codon, Initiator,
pubmed-meshheading:15615874-DNA Mutational Analysis,
pubmed-meshheading:15615874-DNA-Binding Proteins,
pubmed-meshheading:15615874-Female,
pubmed-meshheading:15615874-Genes, Dominant,
pubmed-meshheading:15615874-Homeodomain Proteins,
pubmed-meshheading:15615874-Humans,
pubmed-meshheading:15615874-MSX1 Transcription Factor,
pubmed-meshheading:15615874-Male,
pubmed-meshheading:15615874-PAX9 Transcription Factor,
pubmed-meshheading:15615874-Pedigree,
pubmed-meshheading:15615874-Point Mutation,
pubmed-meshheading:15615874-Polymerase Chain Reaction,
pubmed-meshheading:15615874-Restriction Mapping,
pubmed-meshheading:15615874-Transcription Factors
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pubmed:year |
2005
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pubmed:articleTitle |
Novel mutation of the initiation codon of PAX9 causes oligodontia.
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pubmed:affiliation |
Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, DK- 2200 Copenhagen, Denmark. mette_klein@mail.dk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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