Department of Psychiatry, Brudnick Neuropsychiatric Research Institute
Computational Biology | Genetics | Medical Genetics | Molecular Genetics | Musculoskeletal Diseases
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.
Disease genetics, Genetics research, Medical genetics, Next-generation sequencing
Rights and Permissions
Copyright © 2016, The Author(s).
DOI of Published Version
Sci Rep. 2016 May 24;6:26440. doi: 10.1038/srep26440. Link to article on publisher's site
Andreeva TV, Tyazhelova TV, Rykalina VN, Gusev FE, Goltsov AY, Zolotareva OI, Aliseichik MP, Borodina TA, Grigorenko AP, Reshetov D, Ginter EK, Amelina SS, Zinchenko RA, Rogaev EI. (2016). Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. Open Access Articles. https://doi.org/10.1038/srep26440. Retrieved from https://escholarship.umassmed.edu/oapubs/2833
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.