Craniofacial, dental, and molecular features of Pyle disease in a South African child
Abstract Introduction Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and molecular findings in a South African patient with PD...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2022-09-01
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| Series: | BDJ Open |
| Online Access: | https://doi.org/10.1038/s41405-022-00120-w |
| _version_ | 1828235603709263872 |
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| author | Manogari Chetty Imaan Roomaney Chandré Oosterwyk Noluthando Manyisa Christian Domilongo Bope Gloudi Agenbag Ambroise Wonkam |
| author_facet | Manogari Chetty Imaan Roomaney Chandré Oosterwyk Noluthando Manyisa Christian Domilongo Bope Gloudi Agenbag Ambroise Wonkam |
| author_sort | Manogari Chetty |
| collection | DOAJ |
| description | Abstract Introduction Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and molecular findings in a South African patient with PD. Methods The patient underwent clinical, radiographic and molecular examinations. An exfoliated tooth was analysed using scanning electron microscopy and was compared to a control tooth. Results The patient presented with marked Erlenmeyer-flask deformity (EFD) of the long bones and several Wormian bones. His dental development was delayed by approximately three years. The permanent molars were mesotaurodontic. The bones, including the jaws and cervical vertebrae, showed osteoporotic changes. The lamina dura was absent, and the neck of the condyle lacked normal constrictions. Ionic component analysis of the primary incisors found an absence of magnesium. Sanger sequencing revealed a novel putative pathogenic variant in intron 5 of SFRP4 (c.855+4delAGTA) in a homozygous state. Conclusion This study has reported for the first time the implication of a mutation in the SFRP4 gene in an African patient presenting with PD and highlights the need for dental practitioners to be made aware of the features and management implications of PD. |
| first_indexed | 2024-04-12T20:17:26Z |
| format | Article |
| id | doaj.art-936d7b94105d4b4393776734fe668c7c |
| institution | Directory Open Access Journal |
| issn | 2056-807X |
| language | English |
| last_indexed | 2024-04-12T20:17:26Z |
| publishDate | 2022-09-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | BDJ Open |
| spelling | doaj.art-936d7b94105d4b4393776734fe668c7c2022-12-22T03:18:05ZengNature Publishing GroupBDJ Open2056-807X2022-09-01811710.1038/s41405-022-00120-wCraniofacial, dental, and molecular features of Pyle disease in a South African childManogari Chetty0Imaan Roomaney1Chandré Oosterwyk2Noluthando Manyisa3Christian Domilongo Bope4Gloudi Agenbag5Ambroise Wonkam6Department of Craniofacial Biology, Faculty of Dentistry, University of Western CapeDepartment of Craniofacial Biology, Faculty of Dentistry, University of Western CapeDepartment of Pathology, University of Cape TownDivsion of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape TownDivsion of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape TownDivsion of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape TownDivsion of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape TownAbstract Introduction Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and molecular findings in a South African patient with PD. Methods The patient underwent clinical, radiographic and molecular examinations. An exfoliated tooth was analysed using scanning electron microscopy and was compared to a control tooth. Results The patient presented with marked Erlenmeyer-flask deformity (EFD) of the long bones and several Wormian bones. His dental development was delayed by approximately three years. The permanent molars were mesotaurodontic. The bones, including the jaws and cervical vertebrae, showed osteoporotic changes. The lamina dura was absent, and the neck of the condyle lacked normal constrictions. Ionic component analysis of the primary incisors found an absence of magnesium. Sanger sequencing revealed a novel putative pathogenic variant in intron 5 of SFRP4 (c.855+4delAGTA) in a homozygous state. Conclusion This study has reported for the first time the implication of a mutation in the SFRP4 gene in an African patient presenting with PD and highlights the need for dental practitioners to be made aware of the features and management implications of PD.https://doi.org/10.1038/s41405-022-00120-w |
| spellingShingle | Manogari Chetty Imaan Roomaney Chandré Oosterwyk Noluthando Manyisa Christian Domilongo Bope Gloudi Agenbag Ambroise Wonkam Craniofacial, dental, and molecular features of Pyle disease in a South African child BDJ Open |
| title | Craniofacial, dental, and molecular features of Pyle disease in a South African child |
| title_full | Craniofacial, dental, and molecular features of Pyle disease in a South African child |
| title_fullStr | Craniofacial, dental, and molecular features of Pyle disease in a South African child |
| title_full_unstemmed | Craniofacial, dental, and molecular features of Pyle disease in a South African child |
| title_short | Craniofacial, dental, and molecular features of Pyle disease in a South African child |
| title_sort | craniofacial dental and molecular features of pyle disease in a south african child |
| url | https://doi.org/10.1038/s41405-022-00120-w |
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