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The Gene for Cherubism Maps to Chromosome 4p16
Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a g...
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| Published in: | American journal of human genetics 1999-07, Vol.65 (1), p.158-166 |
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| container_title | American journal of human genetics |
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| creator | Tiziani, Valdenize Reichenberger, Ernst Buzzo, Celso Luiz Niazi, Sadia Fukai, Naomi Stiller, Michael Peters, Hartmut Salzano, Francisco M. Raposo do Amaral, Cassio M. Olsen, Bjorn Reino |
| description | Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of ∼22 cM. |
| doi_str_mv | 10.1086/302456 |
| format | article |
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It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of ∼22 cM.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/302456</identifier><identifier>PMID: 10364528</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Bone resorption ; Cherubism ; Cherubism - diagnosis ; Cherubism - diagnostic imaging ; Cherubism - genetics ; Child ; Chromosome 4p16 ; Chromosome Mapping ; Chromosomes, Human, Pair 4 ; Craniofacial disorders ; Diseases of the osteoarticular system ; Female ; Genetic Markers ; Genotype ; Humans ; Jaw disorders ; Lod Score ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Mandible - diagnostic imaging ; Maxilla - anatomy & histology ; Maxilla - diagnostic imaging ; Medical sciences ; Middle Aged ; Pedigree ; Radiography</subject><ispartof>American journal of human genetics, 1999-07, Vol.65 (1), p.158-166</ispartof><rights>1999 The American Society of Human Genetics</rights><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c498t-90132ff32a7a8d78952b2b7768d6fc3fee8f1458c0a85a235ac2f7dec7781fa43</citedby><cites>FETCH-LOGICAL-c498t-90132ff32a7a8d78952b2b7768d6fc3fee8f1458c0a85a235ac2f7dec7781fa43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1378086/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1378086/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,733,786,790,891,27957,27958,53827,53829</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1880974$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10364528$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tiziani, Valdenize</creatorcontrib><creatorcontrib>Reichenberger, Ernst</creatorcontrib><creatorcontrib>Buzzo, Celso Luiz</creatorcontrib><creatorcontrib>Niazi, Sadia</creatorcontrib><creatorcontrib>Fukai, Naomi</creatorcontrib><creatorcontrib>Stiller, Michael</creatorcontrib><creatorcontrib>Peters, Hartmut</creatorcontrib><creatorcontrib>Salzano, Francisco M.</creatorcontrib><creatorcontrib>Raposo do Amaral, Cassio M.</creatorcontrib><creatorcontrib>Olsen, Bjorn Reino</creatorcontrib><title>The Gene for Cherubism Maps to Chromosome 4p16</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of ∼22 cM.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Bone resorption</subject><subject>Cherubism</subject><subject>Cherubism - diagnosis</subject><subject>Cherubism - diagnostic imaging</subject><subject>Cherubism - genetics</subject><subject>Child</subject><subject>Chromosome 4p16</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 4</subject><subject>Craniofacial disorders</subject><subject>Diseases of the osteoarticular system</subject><subject>Female</subject><subject>Genetic Markers</subject><subject>Genotype</subject><subject>Humans</subject><subject>Jaw disorders</subject><subject>Lod Score</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Mandible - diagnostic imaging</subject><subject>Maxilla - anatomy & histology</subject><subject>Maxilla - diagnostic imaging</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Radiography</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><recordid>eNpdkE1LAzEQhoMotlb9CbIH8baaj83HXgQpWoWKl3oOaXZiI7ubmmwL_nu3tNjqaWDm4X2HB6FLgm8JVuKOYVpwcYSGhDOZC4H5MRpijGle0lIO0FlKnxgTojA7RQOCmSg4VUN0O1tANoEWMhdiNl5AXM19arJXs0xZF_pNDE1IoYGsWBJxjk6cqRNc7OYIvT89zsbP-fRt8jJ-mOa2KFWXl5gw6hyjRhpVSVVyOqdzKYWqhLPMAShHCq4sNoobyrix1MkKrJSKOFOwEbrf5i5X8wYqC20XTa2X0TcmfutgvP57af1Cf4S1Jkyq3kcfcLMLiOFrBanTjU8W6tq0EFZJi1IRrkixB20MKUVwvyUE641avVXbg1eHLx1gW5c9cL0DTLKmdtG01qc9pxQu5aYQbzHo_a09RJ2sh9ZC5SPYTlfB_6_-AS91jqI</recordid><startdate>19990701</startdate><enddate>19990701</enddate><creator>Tiziani, Valdenize</creator><creator>Reichenberger, Ernst</creator><creator>Buzzo, Celso Luiz</creator><creator>Niazi, Sadia</creator><creator>Fukai, Naomi</creator><creator>Stiller, Michael</creator><creator>Peters, Hartmut</creator><creator>Salzano, Francisco M.</creator><creator>Raposo do Amaral, Cassio M.</creator><creator>Olsen, Bjorn Reino</creator><general>Elsevier Inc</general><general>University of Chicago Press</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><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>7X8</scope><scope>5PM</scope></search><sort><creationdate>19990701</creationdate><title>The Gene for Cherubism Maps to Chromosome 4p16</title><author>Tiziani, Valdenize ; Reichenberger, Ernst ; Buzzo, Celso Luiz ; Niazi, Sadia ; Fukai, Naomi ; Stiller, Michael ; Peters, Hartmut ; Salzano, Francisco M. ; Raposo do Amaral, Cassio M. ; Olsen, Bjorn Reino</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c498t-90132ff32a7a8d78952b2b7768d6fc3fee8f1458c0a85a235ac2f7dec7781fa43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Bone resorption</topic><topic>Cherubism</topic><topic>Cherubism - diagnosis</topic><topic>Cherubism - diagnostic imaging</topic><topic>Cherubism - genetics</topic><topic>Child</topic><topic>Chromosome 4p16</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 4</topic><topic>Craniofacial disorders</topic><topic>Diseases of the osteoarticular system</topic><topic>Female</topic><topic>Genetic Markers</topic><topic>Genotype</topic><topic>Humans</topic><topic>Jaw disorders</topic><topic>Lod Score</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Mandible - diagnostic imaging</topic><topic>Maxilla - anatomy & histology</topic><topic>Maxilla - diagnostic imaging</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Radiography</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tiziani, Valdenize</creatorcontrib><creatorcontrib>Reichenberger, Ernst</creatorcontrib><creatorcontrib>Buzzo, Celso Luiz</creatorcontrib><creatorcontrib>Niazi, Sadia</creatorcontrib><creatorcontrib>Fukai, Naomi</creatorcontrib><creatorcontrib>Stiller, Michael</creatorcontrib><creatorcontrib>Peters, Hartmut</creatorcontrib><creatorcontrib>Salzano, Francisco M.</creatorcontrib><creatorcontrib>Raposo do Amaral, Cassio M.</creatorcontrib><creatorcontrib>Olsen, Bjorn Reino</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tiziani, Valdenize</au><au>Reichenberger, Ernst</au><au>Buzzo, Celso Luiz</au><au>Niazi, Sadia</au><au>Fukai, Naomi</au><au>Stiller, Michael</au><au>Peters, Hartmut</au><au>Salzano, Francisco M.</au><au>Raposo do Amaral, Cassio M.</au><au>Olsen, Bjorn Reino</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Gene for Cherubism Maps to Chromosome 4p16</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1999-07-01</date><risdate>1999</risdate><volume>65</volume><issue>1</issue><spage>158</spage><epage>166</epage><pages>158-166</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of ∼22 cM.</abstract><cop>Chicago, IL</cop><pub>Elsevier Inc</pub><pmid>10364528</pmid><doi>10.1086/302456</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | American journal of human genetics, 1999-07, Vol.65 (1), p.158-166 |
| issn | 0002-9297 1537-6605 |
| language | eng |
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| source | BACON - Elsevier - GLOBAL_SCIENCEDIRECT-OPENACCESS; PubMed Central (Open access) |
| subjects | Adolescent Adult Biological and medical sciences Bone resorption Cherubism Cherubism - diagnosis Cherubism - diagnostic imaging Cherubism - genetics Child Chromosome 4p16 Chromosome Mapping Chromosomes, Human, Pair 4 Craniofacial disorders Diseases of the osteoarticular system Female Genetic Markers Genotype Humans Jaw disorders Lod Score Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Mandible - diagnostic imaging Maxilla - anatomy & histology Maxilla - diagnostic imaging Medical sciences Middle Aged Pedigree Radiography |
| title | The Gene for Cherubism Maps to Chromosome 4p16 |
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