{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T23:10:43Z","timestamp":1790377843902,"version":"4.1.0"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2019,4,17]],"date-time":"2019-04-17T00:00:00Z","timestamp":1555459200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.1038\/s10038-019-0601-9","type":"journal-article","created":{"date-parts":[[2019,4,17]],"date-time":"2019-04-17T14:03:48Z","timestamp":1555509828000},"page":"599-607","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia"],"prefix":"10.1038","volume":"64","author":[{"given":"Mingming","family":"Lv","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoling","family":"You","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinbing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qihua","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,4,17]]},"reference":[{"key":"601_CR1","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/0030-4220(76)90254-1","volume":"41","author":"RJ Melrose","year":"1976","unstructured":"Melrose RJ, Abrams AM, Mills BG. Florid osseous dysplasia. a clinical-pathologic study of thirty-four cases. Oral Surg Oral Med Oral Pathol. 1976;41:62\u201382.","journal-title":"Oral Surg Oral Med Oral Pathol"},{"key":"601_CR2","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1016\/0278-2391(85)90283-6","volume":"43","author":"CA Waldron","year":"1985","unstructured":"Waldron CA. Fibro-osseous lesions of the jaws. J Oral Maxillofac Surg. 1985;43:249\u201362.","journal-title":"J Oral Maxillofac Surg"},{"key":"601_CR3","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1177\/014556130608500201","volume":"85","author":"L Thompson","year":"2006","unstructured":"Thompson L. World Health Organization classification of tumours: pathology and genetics of head and neck tumours. Ear Nose Throat J. 2006;85:74.","journal-title":"Ear Nose Throat J"},{"key":"601_CR4","doi-asserted-by":"publisher","first-page":"1440","DOI":"10.1053\/joms.2000.16638","volume":"58","author":"A Toffanin","year":"2000","unstructured":"Toffanin A, Benetti R, Manconi R. Familial florid cemento-osseous dysplasia: a case report. J Oral Maxillofac Surg. 2000;58:1440\u20136.","journal-title":"J Oral Maxillofac Surg"},{"key":"601_CR5","doi-asserted-by":"publisher","first-page":"131","DOI":"10.4103\/0970-9290.29875","volume":"17","author":"M Mangala","year":"2006","unstructured":"Mangala M, Ramesh DN, Surekha PS, Santosh P. Florid cemento-osseous dysplasia: review and report of two cases. Indian J Dent Res. 2006;17:131\u20134.","journal-title":"Indian J Dent Res"},{"key":"601_CR6","doi-asserted-by":"publisher","unstructured":"Kucukkurt S, Rzayev S, Baris E, Atac MS. Familial florid osseous dysplasia: a report with review of the literature. BMJ Case Rep. 2016. \n                    https:\/\/doi.org\/10.1136\/bcr-2015-214162","DOI":"10.1136\/bcr-2015-214162"},{"key":"601_CR7","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1002\/ccr3.426","volume":"3","author":"A Thorawat","year":"2015","unstructured":"Thorawat A, Kalkur C, Naikmasur VG, Tarakji B. Familial florid Cemento-osseous dysplasia\u2014case report and review of literature. Clin Case Rep. 2015;3:1034\u20137.","journal-title":"Clin Case Rep"},{"key":"601_CR8","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","volume":"26","author":"H Li","year":"2010","unstructured":"Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics . 2010;26:589\u201395.","journal-title":"Bioinformatics"},{"key":"601_CR9","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297\u2013303.","journal-title":"Genome Res"},{"key":"601_CR10","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1101\/gr.129684.111","volume":"22","author":"DC Koboldt","year":"2012","unstructured":"Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 2012;22:568\u201376.","journal-title":"Genome Res"},{"key":"601_CR11","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H. ANNOVAR. functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164. \n                    https:\/\/doi.org\/10.1093\/nar\/gkq603","journal-title":"Nucleic Acids Res"},{"key":"601_CR12","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073\u201381.","journal-title":"Nat Protoc"},{"key":"601_CR13","first-page":"Unit7 20","volume":"Chapter 7","author":"I Adzhubei","year":"2013","unstructured":"Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;Chapter 7:Unit7 20.","journal-title":"Curr Protoc Hum Genet"},{"key":"601_CR14","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575\u20136.","journal-title":"Nat Methods"},{"key":"601_CR15","doi-asserted-by":"publisher","first-page":"1504","DOI":"10.1093\/bioinformatics\/btt182","volume":"29","author":"HA Shihab","year":"2013","unstructured":"Shihab HA, Gough J, Cooper DN, Day IN, Gaunt TR. Predicting the functional consequences of cancer-associated amino acid substitutions. Bioinformatics. 2013;29:1504\u201310.","journal-title":"Bioinformatics"},{"key":"601_CR16","doi-asserted-by":"publisher","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","volume":"31","author":"Y Choi","year":"2015","unstructured":"Choi Y, Chan AP. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics. 2015;31:2745\u20137.","journal-title":"Bioinformatics"},{"key":"601_CR17","doi-asserted-by":"publisher","first-page":"2125","DOI":"10.1093\/hmg\/ddu733","volume":"24","author":"C Dong","year":"2015","unstructured":"Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K, et al. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet. 2015;24:2125\u201337.","journal-title":"Hum Mol Genet"},{"key":"601_CR18","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","volume":"99","author":"NM Ioannidis","year":"2016","unstructured":"Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99:877\u201385.","journal-title":"Am J Hum Genet"},{"key":"601_CR19","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1038\/ng.3703","volume":"48","author":"KA Jagadeesh","year":"2016","unstructured":"Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, et al. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet. 2016;48:1581\u20136.","journal-title":"Nat Genet"},{"key":"601_CR20","doi-asserted-by":"publisher","first-page":"e115","DOI":"10.1093\/nar\/gks596","volume":"40","author":"A Untergasser","year":"2012","unstructured":"Untergasser A, Cutcutache I, Koressaar T, Ye J, Faircloth BC, Remm M, et al. Primer3-new capabilities and interfaces. Nucleic Acids Res. 2012;40:e115.","journal-title":"Nucleic Acids Res"},{"key":"601_CR21","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1093\/molbev\/msw054","volume":"33","author":"S Kumar","year":"2016","unstructured":"Kumar S, Stecher G, Tamura K. MEGA7: molecular evolutionary genetics analysis version 7.0 for bigger datasets. Mol Biol Evol. 2016;33:1870\u20134.","journal-title":"Mol Biol Evol"},{"key":"601_CR22","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1146\/annurev.biophys.29.1.291","volume":"29","author":"MA Marti-Renom","year":"2000","unstructured":"Marti-Renom MA, Stuart AC, Fiser A, Sanchez R, Melo F, Sali A. Comparative protein structure modeling of genes and genomes. Annu Rev Biophys Biomol Struct. 2000;29:291\u2013325.","journal-title":"Annu Rev Biophys Biomol Struct"},{"issue":"Web Server issu","key":"601_CR23","doi-asserted-by":"publisher","first-page":"W182","DOI":"10.1093\/nar\/gkl189","volume":"34","author":"F Ferre","year":"2006","unstructured":"Ferre F, Clote P. DiANNA 1.1: an extension of the DiANNA web server for ternary cysteine classification. Nucleic Acids Res. 2006;34(Web Server issue):W182\u2013185.","journal-title":"Nucleic Acids Res"},{"key":"601_CR24","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/S1079-2104(99)70303-3","volume":"87","author":"T Kawai","year":"1999","unstructured":"Kawai T, Hiranuma H, Kishino M, Jikko A, Sakuda M. Cemento-osseous dysplasia of the jaws in 54 Japanese patients: a radiographic study. Oral Surg Oral Med Oral Pathol Oral Radio Endod. 1999;87:107\u201314.","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radio Endod"},{"key":"601_CR25","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1902\/jop.1987.58.3.187","volume":"58","author":"E Baden","year":"1987","unstructured":"Baden E, Saroff SA. Periapical cemental dysplasia and periodontal disease. A case report with review of the literature. J Periodontol. 1987;58:187\u201391.","journal-title":"J Periodontol"},{"key":"601_CR26","doi-asserted-by":"publisher","first-page":"927","DOI":"10.14219\/jada.archive.2005.0294","volume":"136","author":"SR Singer","year":"2005","unstructured":"Singer SR, Mupparapu M, Rinaggio J. Florid cemento-osseous dysplasia and chronic diffuse osteomyelitis Report of a simultaneous presentation and review of the literature. J Am Dent Assoc. 2005;136:927\u201331.","journal-title":"J Am Dent Assoc"},{"key":"601_CR27","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1111\/odi.12531","volume":"23","author":"GN Mainville","year":"2017","unstructured":"Mainville GN, Turgeon DP, Kauzman A. Diagnosis and management of benign fibro-osseous lesions of the jaws: a current review for the dental clinician. Oral Dis. 2017;23:440\u201350.","journal-title":"Oral Dis"},{"key":"601_CR28","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1016\/0030-4220(68)90340-X","volume":"26","author":"SN Bhaskar","year":"1968","unstructured":"Bhaskar SN, Cutright DE. Multiple enostosis. report of 16 cases. J Oral Surg. 1968;26:321\u20136.","journal-title":"J Oral Surg"},{"key":"601_CR29","doi-asserted-by":"publisher","first-page":"1710","DOI":"10.1359\/jbmr.2001.16.9.1710","volume":"16","author":"M Riminucci","year":"2001","unstructured":"Riminucci M, Collins MT, Corsi A, Boyde A, Murphey MD, Wientroub S, et al. Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. J Bone Min Res. 2001;16:1710\u20138.","journal-title":"J Bone Min Res"},{"key":"601_CR30","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1038\/ejhg.2012.224","volume":"21","author":"C Marconi","year":"2013","unstructured":"Marconi C, Brunamonti Binello P, Badiali G, Caci E, Cusano R, Garibaldi J, et al. A novel missense mutation in ANO5\/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. Eur J Hum Genet: Ejhg. 2013;21:613\u20139.","journal-title":"Eur J Hum Genet: Ejhg"},{"key":"601_CR31","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1086\/421527","volume":"74","author":"S Tsutsumi","year":"2004","unstructured":"Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S, et al. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004;74:1255\u201361.","journal-title":"Am J Hum Genet"},{"key":"601_CR32","doi-asserted-by":"publisher","first-page":"1421","DOI":"10.1002\/ajmg.a.36986","volume":"167","author":"J Vengoechea","year":"2015","unstructured":"Vengoechea J, Carpenter L. Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia. Am J Med Genet Part A. 2015;167:1421\u20132.","journal-title":"Am J Med Genet Part A"},{"key":"601_CR33","doi-asserted-by":"publisher","first-page":"e123","DOI":"10.1016\/j.oooo.2016.01.014","volume":"121","author":"HA Duong","year":"2016","unstructured":"Duong HA, Le KT, Soulema AL, Yueh RH, Scheuner MT, Holick MF, et al. Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene. Oral Surg Oral Med Oral Pathol Oral Radiol. 2016;121:e123\u2013128.","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"key":"601_CR34","doi-asserted-by":"publisher","DOI":"10.1038\/srep26440","volume":"6","author":"TV Andreeva","year":"2016","unstructured":"Andreeva TV, Tyazhelova TV, Rykalina VN, Gusev FE, Goltsov AY, Zolotareva OI, et al. Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. Sci Rep. 2016;6:26440. \n                    https:\/\/doi.org\/10.1038\/srep26440","journal-title":"Sci Rep"},{"key":"601_CR35","doi-asserted-by":"publisher","DOI":"10.1038\/srep40935","volume":"7","author":"L Jin","year":"2017","unstructured":"Jin L, Liu Y, Sun F, Collins MT, Blackwell K, Woo AS, et al. Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. Sci Rep. 2017;7:40935. \n                    https:\/\/doi.org\/10.1038\/srep40935","journal-title":"Sci Rep"},{"key":"601_CR36","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1002\/jbmr.2980","volume":"32","author":"T Rolvien","year":"2017","unstructured":"Rolvien T, Koehne T, Kornak U, Lehmann W, Amling M, Schinke T, et al. A novel ANO5 mutation causing gnathodiaphyseal dysplasia with high bone turnover osteosclerosis. J Bone Miner Res: Off J Am Soc Bone Miner Res. 2017;32:277\u201384.","journal-title":"J Bone Miner Res: Off J Am Soc Bone Miner Res"},{"key":"601_CR37","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1007\/s00018-017-2704-9","volume":"75","author":"E Zanni Di","year":"2018","unstructured":"Di Zanni E, Gradogna A, Scholz-Starke J, Boccaccio A. Gain of function of TMEM16E\/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia. Cell Mol Life Sci. 2018;75:1657\u201370.","journal-title":"Cell Mol Life Sci"},{"key":"601_CR38","doi-asserted-by":"publisher","first-page":"1383","DOI":"10.1111\/ene.12191","volume":"20","author":"T Liewluck","year":"2013","unstructured":"Liewluck T, Winder TL, Dimberg EL, Crum BA, Heppelmann CJ, Wang Y, et al. ANO5-muscular dystrophy: clinical, pathological and molecular findings. Eur J Neurol. 2013;20:1383\u20139.","journal-title":"Eur J Neurol"},{"key":"601_CR39","doi-asserted-by":"publisher","first-page":"1900","DOI":"10.1093\/hmg\/ddw063","volume":"25","author":"DA Griffin","year":"2016","unstructured":"Griffin DA, Johnson RW, Whitlock JM, Pozsgai ER, Heller KN, Grose WE, et al. Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy. Hum Mol Genet. 2016;25:1900\u201311.","journal-title":"Hum Mol Genet"},{"key":"601_CR40","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.bbrc.2007.03.108","volume":"357","author":"K Mizuta","year":"2007","unstructured":"Mizuta K, Tsutsumi S, Inoue H, Sakamoto Y, Miyatake K, Miyawaki K, et al. Molecular characterization of GDD1\/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. Biochem Biophys Res Commun. 2007;357:126\u201332.","journal-title":"Biochem Biophys Res Commun"},{"key":"601_CR41","doi-asserted-by":"publisher","DOI":"10.1186\/s13395-015-0069-z","volume":"5","author":"J Xu","year":"2015","unstructured":"Xu J, El Refaey M, Xu L, Zhao L, Gao Y, Floyd K, et al. Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy. Skeletal muscle. 2015; 5:43. Skelet Muscle. 2015;5:43. \n                    https:\/\/doi.org\/10.1186\/s13395-015-0069-z","journal-title":"Skelet Muscle"},{"issue":"5","key":"601_CR42","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1111\/nan.12410","volume":"44","author":"A. Vihola","year":"2017","unstructured":"Vihola A, Luque H, Savarese M, Penttila S, Lindfors M, Leturcq F, et al. Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy. Neuropathol Appl Neurobiol. 2017. \n                    https:\/\/doi.org\/10.1111\/nan.12410","journal-title":"Neuropathology and Applied Neurobiology"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s10038-019-0601-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s10038-019-0601-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s10038-019-0601-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T21:07:21Z","timestamp":1684616841000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-019-0601-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,17]]},"references-count":42,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["601"],"URL":"https:\/\/doi.org\/10.1038\/s10038-019-0601-9","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,4,17]]},"assertion":[{"value":"25 August 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 March 2019","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 April 2019","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 April 2019","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}