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dc.contributor.authorAndreeva, T. V.
dc.contributor.authorTyazhelova, T. V.
dc.contributor.authorRykalina, V. N.
dc.contributor.authorGusev, F. E.
dc.contributor.authorGoltsov, Andrey Y.
dc.contributor.authorZolotareva, O. I.
dc.contributor.authorAliseichik, M. P.
dc.contributor.authorBorodina, T. A.
dc.contributor.authorGrigorenko, Anastasia P.
dc.contributor.authorReshetov, Denis
dc.contributor.authorGinter, E. K.
dc.contributor.authorAmelina, S. S.
dc.contributor.authorZinchenko, R A.
dc.contributor.authorRogaev, Evgeny I.
dc.date2022-08-11T08:09:45.000
dc.date.accessioned2022-08-23T16:42:07Z
dc.date.available2022-08-23T16:42:07Z
dc.date.issued2016-05-24
dc.date.submitted2016-08-16
dc.identifier.citationSci Rep. 2016 May 24;6:26440. doi: 10.1038/srep26440. <a href="http://dx.doi.org/10.1038/srep26440">Link to article on publisher's site</a>
dc.identifier.issn2045-2322 (Linking)
dc.identifier.doi10.1038/srep26440
dc.identifier.pmid27216912
dc.identifier.urihttp://hdl.handle.net/20.500.14038/40027
dc.description.abstractTumors 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.
dc.language.isoen_US
dc.relation<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=27216912&dopt=Abstract">Link to Article in PubMed</a>
dc.rightsCopyright © 2016, The Author(s).
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectDisease genetics
dc.subjectGenetics research
dc.subjectMedical genetics
dc.subjectNext-generation sequencing
dc.subjectComputational Biology
dc.subjectGenetics
dc.subjectMedical Genetics
dc.subjectMolecular Genetics
dc.subjectMusculoskeletal Diseases
dc.titleWhole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies
dc.typeJournal Article
dc.source.journaltitleScientific reports
dc.source.volume6
dc.identifier.legacyfulltexthttps://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=3838&amp;context=oapubs&amp;unstamped=1
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/oapubs/2833
dc.identifier.contextkey8985355
refterms.dateFOA2022-08-23T16:42:08Z
html.description.abstract<p>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.</p>
dc.identifier.submissionpathoapubs/2833
dc.contributor.departmentDepartment of Psychiatry, Brudnick Neuropsychiatric Research Institute
dc.source.pages26440


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