Dental phenotype in an adolescent with osteogenesis imperfecta type XII

Tung, Joanna Yuet‐ling; Ho, Jeni Lai-In; Wong, Ricky W.K.; Fung, Siu‐Chung

doi:10.1136/bcr-2021-246554

Cited by 6 publications

(4 citation statements)

References 21 publications

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“…Another case report study by Tung et al. [ 32 ] presented a 17–year–old Chinese boy diagnosed with OI type XII carrying the same homozygous frameshift mutation in SP7/OSX (c.1052delA; p. Glu 351GfsX19). The main clinical manifestation was recurrent long bone fractures with vertebral collapse.…”

Section: Discussionmentioning

confidence: 99%

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A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies

Al-Mutairi,

Jarragh,

Alsabah

et al. 2024

JBMR Plus

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Introduction Osteogenesis imperfecta (OI) is a heterogeneous spectrum of hereditary genetic disorders that cause bone fragility, through various quantitative and qualitative defects of type 1 collagen, a triple helix composed of two α1 and one α2 chains encoded by COL1A1 and COL1A2, respectively. The main extra-skeletal manifestations of OI include blue sclerae, opalescent teeth and hearing impairment. Moreover, multiple genes involved in osteoblast maturation and type 1 collagen biosynthesis are now known to cause recessive forms of OI. Methods A multiplex consanguineous family of two affected males with OI was recruited for genetic screening. To determine the causative, pathogenic variant(s), genomic DNA from two affected family members were analyzed using whole exome sequencing, autozygosity mapping, and then validated with Sanger sequencing. Results We mapped a homozygous variant previously reported in SP7/OSX, a gene encoding for Osterix, a transcription factor that activates a repertoire of genes involved in osteoblast and osteocyte differentiation and function. The identified variant (c.946C > T; p.Arg316Cys) in exon 2 of SP7/OSX results in a pathogenic amino acid change in two affected male siblings and develops OI, dentinogenesis imperfecta and craniofacial anomaly. Conclusions SP7/OSX:c. 946C > T is a rare homozygous variant causing OI with extra-skeletal features in inbred Arab populations.

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Section: Discussionmentioning

confidence: 99%

“…He had also undergone repeated orthopedic surgery, including corrective osteotomy of the left tibia and modified Sofield procedures of the bilateral tibiae. Delayed DI, primary dentition, enamel hypoplasia, discolouration, obliterated pulp chamber, permanent dentition, bulbous crowns, and short roots were noted [ 32 ].…”

Section: Discussionmentioning

confidence: 99%

A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies

Al-Mutairi,

Jarragh,

Alsabah

et al. 2024

JBMR Plus

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“…The SP7 gene encodes the zinc finger transcription factor osterix protein, primarily generated by osteoblasts. 73 Osterix fosters the maturation of preosteoblasts into osteoblasts with functional properties. Mice deficient in SP7 exhibit insufficient osteoblast growth and proliferation, along with reduced expression of osteoblast markers, highlighting the essential role of SP7 in bone formation.…”

Section: ■ Oi Typologymentioning

confidence: 99%

“…Recent studies have established a connection between OI and genes involved in osteoblast formation. , Loss-of-function mutations in the SP7 gene cause OI type XII. The SP7 gene encodes the zinc finger transcription factor osterix protein, primarily generated by osteoblasts . Osterix fosters the maturation of pre-osteoblasts into osteoblasts with functional properties.…”

Section: Oi Pathogenesismentioning

confidence: 99%

Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches

Sun,

Li,

Wang

et al. 2024

ACS Pharmacol. Transl. Sci.

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Osteogenesis imperfecta (OI) is an uncommon genetic disorder characterized by shortness of stature, hearing loss, poor bone mass, recurrent fractures, and skeletal abnormalities. Pathogenic variations have been found in over 20 distinct genes that are involved in the pathophysiology of OI, contributing to the disorder's clinical and genetic variability. Although medications, surgical procedures, and other interventions can partially alleviate certain symptoms, there is still no known cure for OI. In this Review, we provide a comprehensive overview of genetic pathogenesis, existing treatment modalities, and new developments in biotechnologies such as gene editing, stem cell reprogramming, functional differentiation, and transplantation for potential future OI therapy.

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Update on the Genetics of Osteogenesis Imperfecta

Jovanovic,

Marini

2024

Calcif Tissue Int

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Osteogenesis imperfecta (OI) is a heterogeneous heritable skeletal dysplasia characterized by bone fragility and deformity, growth deficiency, and other secondary connective tissue defects. OI is now understood as a collagen-related disorder caused by defects of genes whose protein products interact with collagen for folding, post-translational modification, processing and trafficking, affecting bone mineralization and osteoblast differentiation. This review provides the latest updates on genetics of OI, including new developments in both dominant and rare OI forms, as well as the signaling pathways involved in OI pathophysiology. There is a special emphasis on discoveries of recessive mutations in TENT5A, MESD, KDELR2 and CCDC134 whose causality of OI types XIX, XX, XXI and XXI, respectively, is now established and expends the complexity of mechanisms underlying OI to overlap LRP5/6 and MAPK/ERK pathways. We also review in detail new discoveries connecting the known OI types to each other, which may underlie an eventual understanding of a final common pathway in OI cellular and bone biology.

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Dental phenotype in an adolescent with osteogenesis imperfecta type XII

Cited by 6 publications

References 21 publications

A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies

A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies

Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches

Update on the Genetics of Osteogenesis Imperfecta

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