Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification
ABSTRACT Fibroblast growth factor 23 (FGF23) plays a crucial role in renal phosphate regulation, exemplified by the causal role of PHEX and DMP1 mutations in X‐linked hypophosphatemic rickets and autosomal recessive rickets type 1, respectively. Using whole exome sequencing we identified compound he...
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| Veröffentlicht in: | Journal of bone and mineral research 2013-06, Vol.28 (6), p.1378-1385 |
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| container_title | Journal of bone and mineral research |
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| creator | Rafaelsen, Silje Hjorth Ræder, Helge Fagerheim, Anne Kristine Knappskog, Per Carpenter, Thomas O Johansson, Stefan Bjerknes, Robert |
| description | ABSTRACT
Fibroblast growth factor 23 (FGF23) plays a crucial role in renal phosphate regulation, exemplified by the causal role of PHEX and DMP1 mutations in X‐linked hypophosphatemic rickets and autosomal recessive rickets type 1, respectively. Using whole exome sequencing we identified compound heterozygous mutations in family with sequence similarity 20, member C (FAM20C) in two siblings referred for hypophosphatemia and severe dental demineralization disease. FAM20C mutations were not found in other undiagnosed probands of a national Norwegian population of familial hypophosphatemia. Our results demonstrate that mutations in FAM20C provide a putative new mechanism in human subjects leading to dysregulated FGF23 levels, hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis of the long bones in the absence of rickets. |
| doi_str_mv | 10.1002/jbmr.1850 |
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Fibroblast growth factor 23 (FGF23) plays a crucial role in renal phosphate regulation, exemplified by the causal role of PHEX and DMP1 mutations in X‐linked hypophosphatemic rickets and autosomal recessive rickets type 1, respectively. Using whole exome sequencing we identified compound heterozygous mutations in family with sequence similarity 20, member C (FAM20C) in two siblings referred for hypophosphatemia and severe dental demineralization disease. FAM20C mutations were not found in other undiagnosed probands of a national Norwegian population of familial hypophosphatemia. Our results demonstrate that mutations in FAM20C provide a putative new mechanism in human subjects leading to dysregulated FGF23 levels, hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis of the long bones in the absence of rickets.</description><identifier>ISSN: 0884-0431</identifier><identifier>EISSN: 1523-4681</identifier><identifier>DOI: 10.1002/jbmr.1850</identifier><identifier>PMID: 23325605</identifier><identifier>CODEN: JBMREJ</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Adolescent ; Adult ; Calcinosis - genetics ; Calcinosis - metabolism ; Calcinosis - pathology ; Casein Kinase I ; Cellular biology ; DNA Mutational Analysis ; Exome ; EXOME SEQUENCING ; Extracellular Matrix Proteins - genetics ; Extracellular Matrix Proteins - metabolism ; FAM20C ; FAMILIAL HYPOPHOSPHATEMIA ; Female ; FGF23 ; Fibroblast Growth Factors - genetics ; Fibroblast Growth Factors - metabolism ; Humans ; Hypophosphatemia, Familial - genetics ; Hypophosphatemia, Familial - metabolism ; Hypophosphatemia, Familial - pathology ; Male ; Medical research ; Mutation ; Norway ; Osteosclerosis - genetics ; Osteosclerosis - metabolism ; Osteosclerosis - pathology ; RAINE SYNDROME ; Tooth Abnormalities - genetics ; Tooth Abnormalities - metabolism ; Tooth Abnormalities - pathology</subject><ispartof>Journal of bone and mineral research, 2013-06, Vol.28 (6), p.1378-1385</ispartof><rights>Copyright © 2013 American Society for Bone and Mineral Research</rights><rights>Copyright © 2013 American Society for Bone and Mineral Research.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4210-60d33a5c2d92badf43310c5481311166d08889a9e6569bb10b31a645cfb46cfc3</citedby><cites>FETCH-LOGICAL-c4210-60d33a5c2d92badf43310c5481311166d08889a9e6569bb10b31a645cfb46cfc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fjbmr.1850$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fjbmr.1850$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23325605$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rafaelsen, Silje Hjorth</creatorcontrib><creatorcontrib>Ræder, Helge</creatorcontrib><creatorcontrib>Fagerheim, Anne Kristine</creatorcontrib><creatorcontrib>Knappskog, Per</creatorcontrib><creatorcontrib>Carpenter, Thomas O</creatorcontrib><creatorcontrib>Johansson, Stefan</creatorcontrib><creatorcontrib>Bjerknes, Robert</creatorcontrib><title>Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification</title><title>Journal of bone and mineral research</title><addtitle>J Bone Miner Res</addtitle><description>ABSTRACT
Fibroblast growth factor 23 (FGF23) plays a crucial role in renal phosphate regulation, exemplified by the causal role of PHEX and DMP1 mutations in X‐linked hypophosphatemic rickets and autosomal recessive rickets type 1, respectively. Using whole exome sequencing we identified compound heterozygous mutations in family with sequence similarity 20, member C (FAM20C) in two siblings referred for hypophosphatemia and severe dental demineralization disease. FAM20C mutations were not found in other undiagnosed probands of a national Norwegian population of familial hypophosphatemia. Our results demonstrate that mutations in FAM20C provide a putative new mechanism in human subjects leading to dysregulated FGF23 levels, hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis of the long bones in the absence of rickets.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Calcinosis - genetics</subject><subject>Calcinosis - metabolism</subject><subject>Calcinosis - pathology</subject><subject>Casein Kinase I</subject><subject>Cellular biology</subject><subject>DNA Mutational Analysis</subject><subject>Exome</subject><subject>EXOME SEQUENCING</subject><subject>Extracellular Matrix Proteins - genetics</subject><subject>Extracellular Matrix Proteins - metabolism</subject><subject>FAM20C</subject><subject>FAMILIAL HYPOPHOSPHATEMIA</subject><subject>Female</subject><subject>FGF23</subject><subject>Fibroblast Growth Factors - genetics</subject><subject>Fibroblast Growth Factors - metabolism</subject><subject>Humans</subject><subject>Hypophosphatemia, Familial - genetics</subject><subject>Hypophosphatemia, Familial - metabolism</subject><subject>Hypophosphatemia, Familial - pathology</subject><subject>Male</subject><subject>Medical research</subject><subject>Mutation</subject><subject>Norway</subject><subject>Osteosclerosis - genetics</subject><subject>Osteosclerosis - metabolism</subject><subject>Osteosclerosis - pathology</subject><subject>RAINE SYNDROME</subject><subject>Tooth Abnormalities - genetics</subject><subject>Tooth Abnormalities - metabolism</subject><subject>Tooth Abnormalities - pathology</subject><issn>0884-0431</issn><issn>1523-4681</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkc1u1DAUhS1ERaeFBS-ALLGhUtNe_9ZZlqoFqlZICNaR4zgdj5w42AnD7HgH1rwcT4Iz03aBhMTq-lqfz_W5B6GXBE4IAD1d1V08IUrAE7QggrKCS0WeogUoxQvgjOyjg5RWACCFlM_QPmWMCgligX5dfg-dxcl-nWxvXH-Ho_1mtU_46vyWgsHdNOrRhT5hnVIwTo-2wWs3LnHr6hhqr9OI72JYzzfajCFiyn7_-Bmt36LLzRCGZUjDMred08e4sf2oPdZ96LR3Nh3nY4Ntfjo4g432xrXObIc-R3tt_ot9cV8P0Zery88X74ubj-8-XJzfFIZTAoWEhjEtDG1KWuum5YwRMIIrwgghUjZ5EarUpc32y7omUDOiJRemrbk0rWGH6M1Od4ghLyKNVeeSsd7r3oYpVYSdUZBUUfUfqOBnJeFKZPT1X-gqTLHPRmaKccpAlZk62lEmhpSibashuk7HTUWgmuOt5nirOd7MvrpXnOrONo_kQ54ZON0Ba-ft5t9K1fXb209byT-RFLFw</recordid><startdate>201306</startdate><enddate>201306</enddate><creator>Rafaelsen, Silje Hjorth</creator><creator>Ræder, Helge</creator><creator>Fagerheim, Anne Kristine</creator><creator>Knappskog, Per</creator><creator>Carpenter, Thomas O</creator><creator>Johansson, Stefan</creator><creator>Bjerknes, Robert</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TS</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>201306</creationdate><title>Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification</title><author>Rafaelsen, Silje Hjorth ; Ræder, Helge ; Fagerheim, Anne Kristine ; Knappskog, Per ; Carpenter, Thomas O ; Johansson, Stefan ; Bjerknes, Robert</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4210-60d33a5c2d92badf43310c5481311166d08889a9e6569bb10b31a645cfb46cfc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Calcinosis - genetics</topic><topic>Calcinosis - metabolism</topic><topic>Calcinosis - pathology</topic><topic>Casein Kinase I</topic><topic>Cellular biology</topic><topic>DNA Mutational Analysis</topic><topic>Exome</topic><topic>EXOME SEQUENCING</topic><topic>Extracellular Matrix Proteins - genetics</topic><topic>Extracellular Matrix Proteins - metabolism</topic><topic>FAM20C</topic><topic>FAMILIAL HYPOPHOSPHATEMIA</topic><topic>Female</topic><topic>FGF23</topic><topic>Fibroblast Growth Factors - genetics</topic><topic>Fibroblast Growth Factors - metabolism</topic><topic>Humans</topic><topic>Hypophosphatemia, Familial - genetics</topic><topic>Hypophosphatemia, Familial - metabolism</topic><topic>Hypophosphatemia, Familial - pathology</topic><topic>Male</topic><topic>Medical research</topic><topic>Mutation</topic><topic>Norway</topic><topic>Osteosclerosis - genetics</topic><topic>Osteosclerosis - metabolism</topic><topic>Osteosclerosis - pathology</topic><topic>RAINE SYNDROME</topic><topic>Tooth Abnormalities - genetics</topic><topic>Tooth Abnormalities - metabolism</topic><topic>Tooth Abnormalities - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rafaelsen, Silje Hjorth</creatorcontrib><creatorcontrib>Ræder, Helge</creatorcontrib><creatorcontrib>Fagerheim, Anne Kristine</creatorcontrib><creatorcontrib>Knappskog, Per</creatorcontrib><creatorcontrib>Carpenter, Thomas O</creatorcontrib><creatorcontrib>Johansson, Stefan</creatorcontrib><creatorcontrib>Bjerknes, Robert</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Physical Education Index</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of bone and mineral research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rafaelsen, Silje Hjorth</au><au>Ræder, Helge</au><au>Fagerheim, Anne Kristine</au><au>Knappskog, Per</au><au>Carpenter, Thomas O</au><au>Johansson, Stefan</au><au>Bjerknes, Robert</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification</atitle><jtitle>Journal of bone and mineral research</jtitle><addtitle>J Bone Miner Res</addtitle><date>2013-06</date><risdate>2013</risdate><volume>28</volume><issue>6</issue><spage>1378</spage><epage>1385</epage><pages>1378-1385</pages><issn>0884-0431</issn><eissn>1523-4681</eissn><coden>JBMREJ</coden><abstract>ABSTRACT
Fibroblast growth factor 23 (FGF23) plays a crucial role in renal phosphate regulation, exemplified by the causal role of PHEX and DMP1 mutations in X‐linked hypophosphatemic rickets and autosomal recessive rickets type 1, respectively. Using whole exome sequencing we identified compound heterozygous mutations in family with sequence similarity 20, member C (FAM20C) in two siblings referred for hypophosphatemia and severe dental demineralization disease. FAM20C mutations were not found in other undiagnosed probands of a national Norwegian population of familial hypophosphatemia. Our results demonstrate that mutations in FAM20C provide a putative new mechanism in human subjects leading to dysregulated FGF23 levels, hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis of the long bones in the absence of rickets.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>23325605</pmid><doi>10.1002/jbmr.1850</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Oxford University Press Journals All Titles (1996-Current); EZB-FREE-00999 freely available EZB journals |
| subjects | Adolescent Adult Calcinosis - genetics Calcinosis - metabolism Calcinosis - pathology Casein Kinase I Cellular biology DNA Mutational Analysis Exome EXOME SEQUENCING Extracellular Matrix Proteins - genetics Extracellular Matrix Proteins - metabolism FAM20C FAMILIAL HYPOPHOSPHATEMIA Female FGF23 Fibroblast Growth Factors - genetics Fibroblast Growth Factors - metabolism Humans Hypophosphatemia, Familial - genetics Hypophosphatemia, Familial - metabolism Hypophosphatemia, Familial - pathology Male Medical research Mutation Norway Osteosclerosis - genetics Osteosclerosis - metabolism Osteosclerosis - pathology RAINE SYNDROME Tooth Abnormalities - genetics Tooth Abnormalities - metabolism Tooth Abnormalities - pathology |
| title | Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification |
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