Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlation

dc.contributor.authorChetty, M
dc.contributor.authorRoberts, T
dc.contributor.authorShaik, S
dc.contributor.authorBeighton, P
dc.date.accessioned2019-09-16T12:35:36Z
dc.date.available2019-09-16T12:35:36Z
dc.date.issued2018
dc.description.abstractBACKGROUND: The maxillofacial and dental manifestations of Osteogenesis imperfecta (OI) have significant implications in terms of management. Although the occurrence of abnormal dentine in some forms of OI is well documented, there is scant information on the association of abnormal dentine in the Black African persons with phenotypic OI III and genotypic OI XI in South Africa. METHODS: This was a cross-sectional analytic study. A series of 64 Black South African individuals with a confirmed phenotypic diagnosis of OI III, ages ranging from 3 months to 29 years, were assessed clinically, radiographically, and at a molecular level. RESULTS: A total number of 64 saliva samples were analyzed and 3 DNA variations were identified in exon 5 of the FKBP10 gene. The homozygous mutation, c.[831dupC]; [831dupC], was identified in 23 affected persons who had no clinically obvious features of DI in their primary and secondary teeth. Radiologically, mild features of DI were evident in 10 persons in whom radiographic images were obtained and were given a Clinical–radiological score of 2. A compound heterozygous mutation, c. [831delC]; [831dupC], was identified in three siblings. An intraoral examination of these affected persons revealed no clinically apparent features of DI in their primary and secondary teeth. Due to the lack of radiological facilities, the presence or absence of DI could not be confirmed or negated. A second compound heterozygous mutation, c.[831dupC]; [1400-4C>G], was identified in a female of 29 years belonging to the Xhosa linguistic group. Her teeth appeared clinically normal but it was not possible to obtain radiographs. In 37 affected individuals, no disease-causing mutations were identified. CONCLUSION: Black African individuals in SA with the homozygous mutation in the FKBP10 gene have clinically unaffected teeth yet exhibited radiographic features of DI to varying degrees. This characterization is suggestive of a relationship between the genetic abnormality and the clinical manifestations of DI. The authors suggest that this diagnosis must include teeth that are clinically and/or radiologically aberrant, and should not exclude the presence of other, milder, dentinal aberrations associated with OI. There was no correlation between severity of OI and DI in this cohort of individuals.en_US
dc.identifier.citationChetty, M., Roberts, T., Shaik, S., & Beighton, P. (2019). Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlation. BDJ Open, 5(1). doi: 10.1038/s41405-019-0014-zen_US
dc.identifier.issn2056-807X
dc.identifier.uridoi: 10.1038/s41405-019-0014-z
dc.identifier.urihttp://hdl.handle.net/10566/4868
dc.language.isoenen_US
dc.publisherSpringer Natureen_US
dc.subjectOsteogenesis imperfecta (OI)en_US
dc.subjectMaxillofacialen_US
dc.subjectGenotypeen_US
dc.subjectPhenotypeen_US
dc.subjectBlack African individualsen_US
dc.titleDentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype–phenotype correlationen_US
dc.typeArticleen_US

Files

Original bundle
Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
Dentinogenesis-imperfecta-in-Osteogenesis-imperfecta-type-XI-in-South-Africa-a-genotypephenotype-correlation2019.pdf
Size:
1.6 MB
Format:
Adobe Portable Document Format
Description:
chetty_Osteogenesis_imperfecta_2018
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description: