title: Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.
abstract: The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the NSD1 gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the NSD1 gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusion for Sotos syndrome could not be identified. As agenesis of premolars was a common feature in these patients affected with Sotos syndrome, we recommend panoramic radiography at the age of 7 years. If premolars are missing, proper preventive and restorative care is necessary to maintain the deciduous molars.
authors.affiliation: Department of Orthodontics, Institute of Dentistry, University of Helsinki, Helsinki, Finland. johanna.kotilainen@kolumbus.fi
authors.forename: Johanna
authors.initials: J
authors.lastname: Kotilainen
authors.forename: Pia
authors.initials: P
authors.lastname: Pohjola
authors.forename: Sinikka
authors.initials: S
authors.lastname: Pirinen
authors.forename: Sirpa
authors.initials: S
authors.lastname: Arte
authors.forename: Pekka
authors.initials: P
authors.lastname: Nieminen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000293:Adolescent; D000848:Anodontia / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D001641:Bicuspid / Q000473:pathology*; D001827:Body Height; D001835:Body Weight; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D003743:Dental Enamel / Q000473:pathology / Q000503:physiopathology; D003766:Dental Occlusion; D003817:Dentition; D005260:Female; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000150:complications / Q000235:genetics; D057085:Tooth Wear / Q000150:complications / Q000503:physiopathology
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human