ArticleOral surgery, oral medicine, oral pathology and oral radiology2016
Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.
Article in Oral surgery, oral medicine, oral pathology and oral radiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Distinct structural mechanisms drive gain-of-function activation of TMEM16E in gnathodiaphyseal dysplasia.Research square · 2026Article
- ANO5 p.I616F variant drives florid cemento-osseous dysplasia by disrupting transmembrane domain structure.BMC oral health · 2025Article
- Article
- Novel Variant inGenes · 2024Article
- Integration of metabolomics and transcriptomics provides insights into enhanced osteogenesis inFrontiers in endocrinology · 2023Article
- Review
- Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.Molecular genetics & genomic medicine · 2022Article
- Multiple periapical dysplasias analyzed by cone-beam-computer tomography andRadiology case reports · 2021Article
- ANO5 ensures trafficking of annexins in wounded myofibers.The Journal of cell biology · 2021Article
- Familial florid cemento-osseous dysplasia: a report of three cases and review of the literature.Dento maxillo facial radiology · 2021Review
- Gnathodiaphyseal dysplasia is not recapitulated in a respective mouse model carrying a mutation of the Ano5 gene.Bone reports · 2020Article
- Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia.Journal of human genetics · 2019Article
- Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia.Head & neck · 2019Article
- Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.Cellular and molecular life sciences : CMLS · 2018Article
- Article
- Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.Scientific reports · 2017Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder characterized by florid osseous dysplasia of the jaws, bone fragility, and diaphyseal cortical thickening and bowing of long bones. We present a family with previously undiagnosed GDD. The disorder was identified by the characteristic gnathic and skeletal manifestations in the father. Clinical and radiologic examination of the patient's son also revealed the characteristic features of GDD. Gene sequencing revealed a novel mutation (c. 1067 G>A, p. Cys356 Tyr) in the ANO5 gene, which is causative for GDD. This mutation was predicted to be detrimental by computational analyses and by structural modeling of the protein. The implications for recognition and management of this disease are discussed.
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