ArticleScientific reports2016
Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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20 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Distinct structural mechanisms drive gain-of-function activation of TMEM16E in gnathodiaphyseal dysplasia.Research square · 2026Article
- Benign fibro-osseous lesions of the cranio-maxillofacial bones: an updated review with special emphasis on molecular pathogenesis.Journal of bone and mineral metabolism · 2026Review
- ANO5 p.I616F variant drives florid cemento-osseous dysplasia by disrupting transmembrane domain structure.BMC oral health · 2025Article
- Article
- The Role of Genetics in Human Oral Health: A Systematic-Narrative Review.Dentistry journal · 2025Review
- [The new WHO classification of jaw tumours].Pathologie (Heidelberg, Germany) · 2023Review
- Cemento-Osseous Dysplasia of the Jaw: Demographic and Clinical Analysis of 191 New Cases.Dentistry journal · 2023Article
- 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
- Article
- ANO5 ensures trafficking of annexins in wounded myofibers.The Journal of cell biology · 2021Article
- Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.Frontiers in genetics · 2021Article
- Molecular findings in maxillofacial bone tumours and its diagnostic value.Virchows Archiv : an international journal of pathology · 2020Review
- ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.Scientific reports · 2019Article
- Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia.Journal of human genetics · 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
14 authors at 5 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Tumors of the jaws may represent different human disorders and frequently associate with pathologic bone fractures. In this report, we analyzed two affected siblings from a family of Russian origin, with a history of dental tumors of the jaws, in correspondence to original clinical diagnosis of cementoma consistent with gigantiform cementoma (GC, OMIM: 137575). Whole exome sequencing revealed the heterozygous missense mutation c.1067G > A (p.Cys356Tyr) in ANO5 gene in these patients. To date, autosomal-dominant mutations have been described in the ANO5 gene for gnathodiaphyseal dysplasia (GDD, OMIM: 166260), and multiple recessive mutations have been described in the gene for muscle dystrophies (OMIM: 613319, 611307); the same amino acid (Cys) at the position 356 is mutated in GDD. These genetic data and similar clinical phenotypes demonstrate that the GC and GDD likely represent the same type of bone pathology. Our data illustrate the significance of mutations in single amino-acid position for particular bone tissue pathology. Modifying role of genetic variations in another gene on the severity of the monogenic trait pathology is also suggested. Finally, we propose the model explaining the tissue-specific manifestation of clinically distant bone and muscle diseases linked to mutations in one gene.
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