Tags

Type your tag names separated by a space and hit enter

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
PLoS One. 2017; 12(5):e0176466.Plos

Abstract

Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation. COL1A1/2 mutations were found in 104 individuals by nucleotide sequencing. DGI was diagnosed clinically and radiographically in 29% of the individuals (44/152) and through isolated histological findings in another 19% (29/152). In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p = 0.01). In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p.Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. DGI was restricted to the deciduous dentition in 20 individuals. Seventeen had missense mutations where glycine to serine was the most prevalent substitution (53%). Taurodontism occurred in 18% and retention of permanent second molars in 31% of the adolescents. Dental aberrations are strongly associated with qualitatively changed collagen I. The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations.

Authors+Show Affiliations

Department of Dental Medicine, Division of Pediatric Dentistry, Karolinska Institutet, Huddinge, Sweden.Department of Dental Medicine, Division of Pediatric Dentistry, Karolinska Institutet, Huddinge, Sweden. Center for Pediatric Oral Health Research, Stockholm, Sweden.Department of Medical Sciences, Uppsala University, Uppsala, Sweden.Department of Medical Sciences, Uppsala University, Uppsala, Sweden.Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden. Pediatric Neurology and Musculoskeletal disorders and Home care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.Department of Dental Medicine, Division of Pediatric Dentistry, Karolinska Institutet, Huddinge, Sweden.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28498836

Citation

Andersson, Kristofer, et al. "Mutations in COL1A1 and COL1A2 and Dental Aberrations in Children and Adolescents With Osteogenesis Imperfecta - a Retrospective Cohort Study." PloS One, vol. 12, no. 5, 2017, pp. e0176466.
Andersson K, Dahllöf G, Lindahl K, et al. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. PLoS One. 2017;12(5):e0176466.
Andersson, K., Dahllöf, G., Lindahl, K., Kindmark, A., Grigelioniene, G., Åström, E., & Malmgren, B. (2017). Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. PloS One, 12(5), e0176466. https://doi.org/10.1371/journal.pone.0176466
Andersson K, et al. Mutations in COL1A1 and COL1A2 and Dental Aberrations in Children and Adolescents With Osteogenesis Imperfecta - a Retrospective Cohort Study. PLoS One. 2017;12(5):e0176466. PubMed PMID: 28498836.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. AU - Andersson,Kristofer, AU - Dahllöf,Göran, AU - Lindahl,Katarina, AU - Kindmark,Andreas, AU - Grigelioniene,Giedre, AU - Åström,Eva, AU - Malmgren,Barbro, Y1 - 2017/05/12/ PY - 2016/12/19/received PY - 2017/04/11/accepted PY - 2017/5/13/entrez PY - 2017/5/13/pubmed PY - 2017/9/15/medline SP - e0176466 EP - e0176466 JF - PloS one JO - PLoS One VL - 12 IS - 5 N2 - Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation. COL1A1/2 mutations were found in 104 individuals by nucleotide sequencing. DGI was diagnosed clinically and radiographically in 29% of the individuals (44/152) and through isolated histological findings in another 19% (29/152). In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p = 0.01). In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p.Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. DGI was restricted to the deciduous dentition in 20 individuals. Seventeen had missense mutations where glycine to serine was the most prevalent substitution (53%). Taurodontism occurred in 18% and retention of permanent second molars in 31% of the adolescents. Dental aberrations are strongly associated with qualitatively changed collagen I. The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations. SN - 1932-6203 UR - https://www.unboundmedicine.com/medline/citation/28498836/Mutations_in_COL1A1_and_COL1A2_and_dental_aberrations_in_children_and_adolescents_with_osteogenesis_imperfecta___A_retrospective_cohort_study_ L2 - https://dx.plos.org/10.1371/journal.pone.0176466 DB - PRIME DP - Unbound Medicine ER -