{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T03:41:10Z","timestamp":1771904470282,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2007,10,1]],"date-time":"2007-10-01T00:00:00Z","timestamp":1191196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>PAX9<\/jats:italic> and <jats:italic>MSX1<\/jats:italic> are transcription factors that play essential roles in craniofacial and limb development. In humans, mutations in both genes are associated with nonsyndromic and syndromic oligodontia, respectively. We screened one family with nonsyndromic oligodontia for mutations in <jats:italic>PAX9<\/jats:italic> and <jats:italic>MSX1.<\/jats:italic> Single stranded conformational polymorphism (SSCP) analysis and sequencing revealed a novel heterozygous C139T transition in <jats:italic>PAX9<\/jats:italic> in the affected members of the family. There were no mutations detected in the entire coding sequence of <jats:italic>MSX1<\/jats:italic>. The C139T mutation, predicted to result in the substitution of an arginine by a tryptophan (R47W) in the N\u2010terminal subdomain, affected conserved residues in the <jats:italic>PAX9<\/jats:italic> paired domain. To elucidate the pathogenic mechanism producing oligodontia phenotype caused by this mutation, we analyzed the binding of wild\u2010type and mutant <jats:italic>PAX9<\/jats:italic> paired domain protein to double\u2010stranded DNA targets. The R47W mutation dramatically reduced DNA binding suggesting that the mutant protein with consequent haploinsufficiency results in a clinical phenotype. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31993","type":"journal-article","created":{"date-parts":[[2007,10,1]],"date-time":"2007-10-01T21:16:32Z","timestamp":1191273392000},"page":"2592-2597","source":"Crossref","is-referenced-by-count":23,"title":["A novel missense mutation in the paired domain of human <i>PAX9<\/i> causes 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