MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and cleft palate showed a nonsense mutation (Ser104stop) in exon 1 of MSX1. The mutant phenotype of the family is similar to that of the Msx1-mutant mouse.

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Bibliographische Detailangaben
Veröffentlicht in:	Nature genetics 2000-04, Vol.24 (4), p.342-343
Hauptverfasser:	van den Boogaard, Marie-José H., Dorland, Marinus, Beemer, Frits A., van Amstel, Hans Kristian Ploos
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Animal Genetics and Genomics Animals Anodontia - complications Anodontia - genetics BCL3 gene Biological and medical sciences Biomedical and Life Sciences Biomedicine Birth defects brief-communication Cancer Research Child, Preschool Cleft Lip - complications Cleft Lip - genetics Cleft palate Cleft Palate - complications Cleft Palate - genetics Complications and side effects Diagnosis DLX2 gene DNA Mutational Analysis Facial bones, jaws, teeth, parodontium: diseases, semeiology Female Gene Function Gene mutations Genes Genetic aspects Genetics Genotype & phenotype Heterozygote Homeodomain Proteins - genetics Human Genetics Humans Male Medical sciences Mice MSX1 gene MSX1 Transcription Factor Mutation Non tumoral diseases Otorhinolaryngology. Stomatology Pedigree Phenotype Point Mutation - genetics Risk factors Teeth TGFA gene TGFB3 gene Tooth diseases Transcription Factors
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Beschreibung
Zusammenfassung:	A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and cleft palate showed a nonsense mutation (Ser104stop) in exon 1 of MSX1. The mutant phenotype of the family is similar to that of the Msx1-mutant mouse.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/74155