ECTS2013 Poster Presentations Genetics (17 abstracts)
Association between dentinogenesis imperfecta and mutations in COLIA1 and COLIA2 genes
Kristofer Andersson 1 , Göran Dahllöf 1 , Eva Æström 1, , C-J Rubin 4 , A Kindmark 4 , Katarina Lindahl 4 , Östen Ljunggren 4 & Barbro Malmgren 1
1Division of Pediatric Dentistry, Department of Dental Medicine, Karolinska Institutet, Stockholm, Sweden; 2Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden; 3BM3, Karolinska University Hospital, Stockholm, Sweden; 4Department of Endocrinology, Medical Sciences, Uppsala University, Uppsala, Sweden.
Introduction: Dentinogenesis imperfecta (DI) is a common dental aberration in patients with osteogenesis imperfecta (OI). Mutations that cause abnormal collagen chains will cause more serious types of OI and it has been claimed that DI should be a marker for qualitative defected collagen. It has also been supposed that normal development of teeth may be more dependent on normal α2(I) than normal α1(I) chains which are encoded by COLIA2 and COLIA1 genes respectively. The purpose of the present study is to investigate the correlation between dentinogenesis imperfecta and mutations in COLIA2 and COLIA1 genes.
Subjects and methods: 126 families with OI accepted participation. Exons and flanking introns sequences of COL1A1 and COL1A2 have been sequenced in 93 of these families; 54 type I, 21 type IV, 15 type III, and 3 with unclear OI type. Only one patient from each family was included in the study. Clinical and radiographic examinations were performed in 85 of these patients regarding DI.
Results: Mutations in the COL1A1 gene were found in 63 patients. DI was observed in 21 of these patients (33%). Mutations in the COL1A2 gene were found in 20 patients and DI was present in 14 of these patients (70%; P=0.013).
Conclusion: It seems to be a correlation between DI and mutations in the different α-chains. Patients with an α2(I) aberration had DI significantly more often compared to those with an α1(I) aberration.
Article tools
My recent searches
My recently viewed abstracts
Authors
Bone Abstracts
ISSN 2052-1219 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more