Recessively inherited lower incisor hypodontia

Pirinen, Sinikka

doi:10.1136/jmg.38.8.551

Cited by 50 publications

(52 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The involvement of common genetic pathways forms the basis for ectodermal dysplasias, a group of approximately 200 congenital diseases affecting hair, nails, teeth and eccrine glands (reviewed by Itin and Fistarol, 2004). In addition to variable involvement of teeth in different forms of ectodermal dysplasias, minor ectodermal anomalies are often observed in the association of severe tooth agenesis (Schalk-van der Weide, '92; Nordgarden et al, 2001;Pirinen et al, 2001).…”

Section: Tooth Agenesis In Ectodermal Dysplasia Syndromes: Mutations mentioning

confidence: 98%

Genetic basis of tooth agenesis

Nieminen¹

2009

J Exp Zool Pt B

227

215

View full text Add to dashboard Cite

Tooth agenesis or hypodontia, failure to develop all normally developing teeth, is one of the most common developmental anomalies in man. Common forms, including third molar agenesis and hypodontia of one or more of the incisors and premolars, constitute the great majority of cases. They typically affect those teeth that develop latest in each tooth class and these teeth are also most commonly affected in more severe and rare types of tooth agenesis. Specific vulnerability of the last developing teeth suggests that agenesis reflects quantitative defects during dental development. So far molecular genetics has revealed the genetic background of only rare forms of tooth agenesis. Mutations in MSX1, PAX9, AXIN2 and EDA have been identified in familial severe agenesis (oligodontia) and mutations in many other genes have been identified in syndromes in which tooth agenesis is a regular feature. Heterozygous loss of function mutations in many genes reduce the gene dose, whereas e.g. in hypohidrotic ectodermal dysplasia (EDA) the complete inactivation of the partially redundant signaling pathway reduces the signaling centers. Although these mechanisms involve quantitative disturbances, the phenotypes associated with mutations in different genes indicate that in addition to an overall reduction of odontogenic potential, tooth class-specific and more complex mechanisms are also involved. Although several of the genes so far identified in rare forms of tooth agenesis are being studied as candidate genes of common third molar agenesis and incisor and premolar hypodontia, it is plausible that novel genes that contribute to these phenotypes will also become identified.

show abstract

Section: Tooth Agenesis In Ectodermal Dysplasia Syndromes: Mutations mentioning

confidence: 98%

Genetic basis of tooth agenesis

Nieminen¹

2009

J Exp Zool Pt B

227

215

View full text Add to dashboard Cite

show abstract

“…4 Both genetic and environmental factors may result in tooth agenesis. In most individuals, hypodontia has a genetic background, as shown in family studies 5,6 or by identifying the gene mutations involved. [7][8][9] Some environmental factors, such as multiagent chemotherapy and radiotherapy, are known to cause tooth agenesis when used in pediatric anticancer therapy.…”

mentioning

confidence: 99%

Agenesis and microdontia of permanent teeth as late adverse effects after stem cell transplantation in young children

Hölttä

Alaluusua

Saarinen‐Pihkala

et al. 2004

Cancer

100

View full text Add to dashboard Cite

BACKGROUNDThe objective of the current study was to examine the occurrence of tooth agenesis and microdontia in pediatric stem cell transplantation (SCT) recipients.METHODSThe impact of total body irradiation (TBI) and age at SCT on agenesis and microdontia of permanent teeth was examined in 55 patients from panoramic radiographs. Assessment A1 (for tooth agenesis and microdontia) excluded the third molars, and assessment A2 (for tooth agenesis) included the third molars. Patients were grouped according to TBI status (the TBI group vs. the non‐TBI group) and age at SCT (patients age ≤ 3.0 years [Group Y], patients ages 3.1–5.0 years [Group M], and patients age ≥ 5.1 years [Group O]).RESULTSFrom 1 to 12 teeth were missing in 77%, 40%, and 0% of patients (assessment A1) in Groups Y, M, and O, respectively (Group Y vs. Group M, P = 0.055; Group Y vs. Group O, P < 0.001; and Group M vs. Group O, P = 0.002), increasing to 83%, 78%, and 43%, respectively, when the third molars were included (assessment A2; P values were not significant). Correspondingly, 75%, 60%, and 13%, respectively, of patients had 1–12 microdontic teeth (assessment A1: Group Y vs. Group M, P = 0.306; Group Y vs. Group O, P < 0.001; and Group M vs. Group O, P = 0.003). Recipient age at the time of SCT was found to have a negative correlation with the number of missing teeth (P = 0.001) and microdontic teeth (P = 0.005). TBI appeared to have little effect on the prevalence of tooth agenesis (assessment A1: TBI group, 32%; non‐TBI group, 29%; assessment A2: TBI group, 72%; non‐TBI group, 46%; P values were not significant) or on the prevalence of microdontia (assessment A1: TBI, 41%; non‐TBI, 50%; P value was not significant). A tendency toward an increased number of affected teeth was noticed in the group of patients who received TBI.CONCLUSIONSDepending on their age at SCT, 50–100% of pediatric SCT recipients will later present with agenesis and/or microdontia of permanent teeth that may jeopardize occlusal development. Young age (≤ 5.0 years) at SCT was found to be a stronger risk factor than TBI, although TBI caused additive impairment. Cancer, 2005. © 2004 American Cancer Society.

show abstract

“…[22] However, an autosomal recessive mode of inheritance for hypodontia has been reported in a Pakistani family which mapped to chromosome 16q12.153 and in another report on Finnish patients that are afflicted with a specific type of hypodontia , where patients notably lacked both deciduous and permanent incisors . [23] It has also been suggested that it can follow sex-linked or polygenic inheritance patterns54- [24]. Recently, direct evidence was gathered for the genetic basis of tooth agenesis thanks to the mapping of human disease genes using linkage analysis followed by mutation analysis of positional candidate genes present in the candidate interval.…”

Section: Introductionmentioning

confidence: 99%