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Direct sequencing of the coding regions, including exon\/intron boundaries of the msh homeobox 1 (<jats:styled-content style=\"fixed-case\"><jats:italic>MSX<\/jats:italic><\/jats:styled-content><jats:italic>1<\/jats:italic>), paired box 9 (<jats:styled-content style=\"fixed-case\"><jats:italic>PAX<\/jats:italic><\/jats:styled-content><jats:italic>9<\/jats:italic>), ectodysplasin <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\"><jats:italic>EDA<\/jats:italic><\/jats:styled-content>), and wingless\u2010type <jats:styled-content style=\"fixed-case\">MMTV<\/jats:styled-content> integration site family, member 10 (<jats:styled-content style=\"fixed-case\"><jats:italic>WNT<\/jats:italic><\/jats:styled-content><jats:italic>10A<\/jats:italic>) genes, was carried out in affected family members. All identified nucleotide variations were tested in 200 healthy individuals using high\u2010resolution melting (<jats:styled-content style=\"fixed-case\">HRM<\/jats:styled-content>) curve analysis to exclude the possibility that they represent rare polymorphisms. A novel heterozygous c.59del<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content> mutation, segregating in the autosomal\u2010dominant model, was identified in the <jats:styled-content style=\"fixed-case\"><jats:italic>PAX<\/jats:italic><\/jats:styled-content><jats:italic>9<\/jats:italic> gene of the proband and the family members studied. This one\u2010nucleotide deletion, located in a highly conserved <jats:italic>paired box<\/jats:italic> sequence, resulted in a frameshift (p.Pro20Argfs65) and in premature termination of translation, yielding a truncated protein 258 amino acids shorter than the wildtype protein. No pathogenic mutations were found in the <jats:styled-content style=\"fixed-case\"><jats:italic>MSX<\/jats:italic><\/jats:styled-content><jats:italic>1<\/jats:italic>,<jats:styled-content style=\"fixed-case\"> <jats:italic>EDA<\/jats:italic><\/jats:styled-content>, and <jats:styled-content style=\"fixed-case\"><jats:italic>WNT<\/jats:italic><\/jats:styled-content><jats:italic>10<\/jats:italic><jats:styled-content style=\"fixed-case\"><jats:italic>A<\/jats:italic><\/jats:styled-content> genes. In conclusion, the novel <jats:styled-content style=\"fixed-case\"><jats:italic>PAX<\/jats:italic><\/jats:styled-content><jats:italic>9<\/jats:italic> deletion might be responsible for tooth agenesis and trichodysplasia in the investigated family. This c.59delC mutation potentially leads to <jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content>9 transcription factor haploinsufficiency.<\/jats:p>","DOI":"10.1111\/eos.12071","type":"journal-article","created":{"date-parts":[[2013,7,13]],"date-time":"2013-07-13T17:03:23Z","timestamp":1373735003000},"page":"403-411","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Novel <scp><i>PAX<\/i><\/scp><i>9<\/i> mutation associated with syndromic tooth agenesis"],"prefix":"10.1111","volume":"121","author":[{"given":"Adrianna","family":"Mostowska","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Poznan University of Medical Sciences Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Zadurska","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Institute of Dentistry The Medical University 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