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A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth
Author(s) -
Hansen Lars,
Kreiborg Sven,
Jarlov Henrik,
Niebuhr Erik,
Eiberg Hans
Publication year - 2007
Publication title -
european journal of oral sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.802
H-Index - 93
eISSN - 1600-0722
pISSN - 0909-8836
DOI - 10.1111/j.1600-0722.2007.00457.x
Subject(s) - hypodontia , nonsense mutation , oligodontia , genetics , mutation , permanent teeth , biology , nonsense , molar , gene , orthodontics , medicine , missense mutation , paleontology
Tooth development is under strict genetic control. During the last decade, studies in molecular genetics have led to the identification of gene defects causing the congenital absence of permanent teeth. Analyses of PAX9 and MSX1 in nine families with hypodontia and oligodontia revealed one new PAX9 mutation. A LOD score of Z = 1.8 ( θ = 0.0) was obtained for D14S75 close to PAX9 in one three‐generation family, and sequencing of the gene identified the nonsense mutation c.433C>T. The mutation results in a truncated PAX9 protein containing the paired domain region as a result of the Q145X stop mutation. The family showed a marked phenotypic variability in the number of missing teeth, ranging from 2 to 15 missing teeth. The highest frequency of missing teeth was found for second molars followed by second premolars.