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Tooth agenesis in o...
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes
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- Malmgren, B. (author)
- Karolinska Institutet
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- Andersson, K. (author)
- Karolinska Institutet
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- Lindahl, Katarina (author)
- Uppsala universitet,Endokrinologi och mineralmetabolism
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- Kindmark, Andreas (author)
- Uppsala universitet,Endokrinologi och mineralmetabolism
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- Grigelioniene, G. (author)
- Karolinska Institutet
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- Zachariadis, V. (author)
- Karolinska Institutet
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- Dahllof, G. (author)
- Karolinska Inst, Div Pediat Dent, Dept Dent Med, Stockholm, Sweden.
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- Astrom, E. (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2016-09-13
- 2017
- English.
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In: Oral Diseases. - : Wiley. - 1354-523X .- 1601-0825. ; 23:1, s. 42-49
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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- BackgroundOsteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, mainly caused by mutations in the collagen type I genes (COL1A1 and COL1A2). Tooth agenesis is a common feature of OI. We investigated the association between tooth agenesis and collagen type I mutations in individuals with OI. Subjects and methodsIn this cohort study, 128 unrelated individuals with OI were included. Panoramic radiographs were analyzed regarding dentinogenesis imperfecta (DGI) and congenitally missing teeth. The collagen I genes were sequenced in all individuals, and in 25, multiplex ligation-dependent probe amplification was performed. ResultsMutations in the COL1A1 and COL1A2 genes were found in 104 of 128 individuals. Tooth agenesis was diagnosed in 17% (hypodontia 11%, oligodontia 6%) and was more frequent in those with DGI (P=0.016), and in those with OI type III, 47%, compared to those with OI types I, 12% (P=0.003), and IV, 13% (P=0.017). Seventy-five percent of the individuals with oligodontia (6 missing teeth) had qualitative mutations, but there was no association with OI type, gender, or presence of DGI. ConclusionThe prevalence of tooth agenesis is high (17%) in individuals with OI, and OI caused by a qualitative collagen I mutation is associated with oligodontia.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Odontologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Dentistry (hsv//eng)
Keyword
- osteogenesis imperfecta
- tooth agenesis
- hypodontia
- oligodontia
- dentinogenesis imperfecta
- mutations
Publication and Content Type
- ref (subject category)
- art (subject category)
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