Osteogenesis Imperfecta in Southern Africa Diagnostic Categorisation and Biomolecular Findings<sup>a</sup>

Beighton, Peter; Wallis, Gillian A.; Viljoen, Denis; Versfeld, G. A.

doi:10.1111/j.1749-6632.1988.tb55314.x

Cited by 7 publications

(5 citation statements)

References 14 publications

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“…This phenotype is caused by mutations in the LEPRE1 gene which encodes P3H1 responsible for 3-hydroxylation of proline-986 [85]. It had been recognized that recessively inherited type III OI occurs in South African families [86]. Cabral et al studied five west African patients whose phenotype overlapped types II/III (lethal/severe) OI.…”

Section: Osteogenesis Imperfecta Type VIII (Omim 610915)mentioning

confidence: 98%

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

Shapiro

2013

Osteoporosis

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Section: Osteogenesis Imperfecta Type VIII (Omim 610915)mentioning

confidence: 98%

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

Shapiro

2013

Osteoporosis

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“…A characteristic facial appearance and variable structural cardiac defects complete the phenotype. The sequelae of articular Beighton et al, 1983Spranger et al, 1982Viljoen and Beighton, 1987Beighton et al, 1988Viljoen et al, 1989 Horan and Beighton, 1976 Horan and Beighton et al, 1977 Horan and Beighton, 1978 Beighton, 1988Beighton et al, 1984Beighton and Hamersma, 1980 Zack and Beighton, 1995 Beighton, 1989 Undiagnosable &teochondrodysplasias 86 which molecular studies are underway.…”

Section: Spondyloepimetaphyseal Dysplasia With Joint Laxity (Semdjl)mentioning

confidence: 99%

Osteochondrodysplasias in South Africa

Beighton

1996

Am. J. Med. Genet.

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Jürgen Spranger's visit to the University of Cape Town in 1974 provided impetus for the establishment of a bone dysplasia registry. By 1996 more than 2,500 affected persons had been documented and radiographs and DNA had been obtained in many instances. Of these disorders, about 1,500 fall into the category of “osteochondrodysplasias” as listed in the International Nomenclature [Spranger, 1992]. The numbers of affected persons with each of these disorders are presented in this article. Departmental or collaborative investigations on DNA banked in conjunction with the registry, has resulted in localization or characterization of several determinant genes. In this way, Spranger's early contributions to the Cape have led directly to the elucidation of several import genetic skeletal dysplasias. © 1996 Wiley‐Liss, Inc.

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“…Although worldwide, autosomal recessive OI is rare, the frequency of a form of OI III is relatively high in the indigenous Black African population of South Africa. 6–8 When molecular investigatios have been undertaken, mutations in the FKBP10 gene that encodes the collagen chaperone-like protein FKBP65 were identified. 9 FKBP10 is one of the newer members of an expanding list of AR OI genes and was first documented in OI III by Alanay et al 10…”

Section: Introductionmentioning

confidence: 99%

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

2019

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Background 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.

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Osteogenesis Imperfecta in Southern Africa Diagnostic Categorisation and Biomolecular Findings^a

Cited by 7 publications

References 14 publications

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

Osteochondrodysplasias in South Africa

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

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Osteogenesis Imperfecta in Southern Africa Diagnostic Categorisation and Biomolecular Findingsa

Cited by 7 publications

References 14 publications

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

Osteochondrodysplasias in South Africa

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

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Osteogenesis Imperfecta in Southern Africa Diagnostic Categorisation and Biomolecular Findings^a