Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

Failure to develop complete dentition, tooth agenesis, is a common developmental anomaly manifested most often as isolated but also as associated with many developmental syndromes. It typically affects third molars or one or few other permanent teeth but severe agenesis is also relatively prevalent. Here we report mutational analyses of seven candidate genes in a cohort of 127 probands with non-syndromic tooth agenesis.

Dental arch width, overbite, and overjet in a Finnish population with normal occlusion between the ages of 7 and 32 years.

The aims of the present study were to provide data on growth changes in the dental arches from age 7 to 32 in Finns with untreated normal Angle Class I occlusions. The material consisted of 33 series of dental casts of 18 women and 15 men. The subjects had been examined and study models taken at the ages of 7, 10, 12, 15, and 32.

Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.

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.

Oral and oesophageal squamous cell carcinoma--a complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I).

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease exceptionally common in Finland. It is associated with a limited T lymphocyte defect, an autoimmune response to various tissues, particularly endocrine glands. Most patients have chronic oral candidosis, which has been suggested to be carcinogenic.

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.

Wnt signaling regulates embryonic pattern formation and morphogenesis of most organs. Aberrations of regulation of Wnt signaling may lead to cancer. Here, we have used positional cloning to identify the causative mutation in a Finnish family in which severe permanent tooth agenesis (oligodontia) and colorectal neoplasia segregate with dominant inheritance.

A missense mutation in PAX9 in a family with distinct phenotype of oligodontia.

Mutations in PAX9 have been described for families in which inherited oligodontia characteristically involves permanent molars. Our study analysed one large family with dominantly inherited oligodontia clinically and genetically. In addition to permanent molars, some teeth were congenitally missing in the premolar, canine, and incisor regions.

Prevalence of short-root anomaly in healthy young adults.

Short-root anomaly (SRA), occurring mostly in maxillary incisors, is defined as developmentally very short, blunt dental roots. The condition has a genetic background and is related to hypodontia. Earlier population studies have been based on schoolchildren with developing dentitions and have indicated prevalence figures between 1% and 10%.