A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia : exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix
We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiphyseal dysplasia in adults. Electron microscopic ex...
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Veröffentlicht in: | Human genetics 1994-03, Vol.93 (3), p.236-242 |
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creator | RIMOIN, D. L RASMUSSEN, I. M GARBER, A. P GROVER, J LACHMAN, R. S COHN, D. H BRIGGS, M. D ROUGHLEY, P. J GRUBER, H. E WARMAN, M. L OLSEN, B. R HSIA, Y. E YUEN, J REINKER, K |
description | We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiphyseal dysplasia in adults. Electron microscopic examination of cartilage reveals accumulation of material within the rough endoplasmic reticulum similar to that seen in pseudoachondroplasia and the Fairbank type of multiple epiphyseal dysplasia. By linkage analysis, we have excluded the genes for aggrecan, decorin, hexabrachion (tenascin), type II procollagen, the alpha 1 chain of type XI procollagen, the alpha 1 chain of type IX procollagen, and link protein, candidate genes that encode structural components of the cartilage extracellular matrix, as the disease locus for this disorder. |
doi_str_mv | 10.1007/BF00212015 |
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L ; RASMUSSEN, I. M ; GARBER, A. P ; GROVER, J ; LACHMAN, R. S ; COHN, D. H ; BRIGGS, M. D ; ROUGHLEY, P. J ; GRUBER, H. E ; WARMAN, M. L ; OLSEN, B. R ; HSIA, Y. E ; YUEN, J ; REINKER, K</creator><creatorcontrib>RIMOIN, D. L ; RASMUSSEN, I. M ; GARBER, A. P ; GROVER, J ; LACHMAN, R. S ; COHN, D. H ; BRIGGS, M. D ; ROUGHLEY, P. J ; GRUBER, H. E ; WARMAN, M. L ; OLSEN, B. R ; HSIA, Y. E ; YUEN, J ; REINKER, K</creatorcontrib><description>We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiphyseal dysplasia in adults. Electron microscopic examination of cartilage reveals accumulation of material within the rough endoplasmic reticulum similar to that seen in pseudoachondroplasia and the Fairbank type of multiple epiphyseal dysplasia. By linkage analysis, we have excluded the genes for aggrecan, decorin, hexabrachion (tenascin), type II procollagen, the alpha 1 chain of type XI procollagen, the alpha 1 chain of type IX procollagen, and link protein, candidate genes that encode structural components of the cartilage extracellular matrix, as the disease locus for this disorder.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00212015</identifier><identifier>PMID: 7907311</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Abnormalities, Multiple - genetics ; Achondroplasia - diagnostic imaging ; Achondroplasia - genetics ; Adolescent ; Adult ; Biological and medical sciences ; Cartilage - metabolism ; Cartilage - ultrastructure ; Cell Line ; Child ; Diseases of the osteoarticular system ; Extracellular Matrix Proteins - genetics ; Female ; Genetic Linkage ; Humans ; Inclusion Bodies - ultrastructure ; Infant ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Osteochondrodysplasias - diagnostic imaging ; Osteochondrodysplasias - genetics ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Radiography</subject><ispartof>Human genetics, 1994-03, Vol.93 (3), p.236-242</ispartof><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c226t-e881d31c8ce6f5337dc6f41372ed5f8f24ab3411dea7582d8f9d492c0aa17b7a3</citedby><cites>FETCH-LOGICAL-c226t-e881d31c8ce6f5337dc6f41372ed5f8f24ab3411dea7582d8f9d492c0aa17b7a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,778,782,27911,27912</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3954920$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7907311$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>RIMOIN, D. L</creatorcontrib><creatorcontrib>RASMUSSEN, I. M</creatorcontrib><creatorcontrib>GARBER, A. P</creatorcontrib><creatorcontrib>GROVER, J</creatorcontrib><creatorcontrib>LACHMAN, R. S</creatorcontrib><creatorcontrib>COHN, D. H</creatorcontrib><creatorcontrib>BRIGGS, M. D</creatorcontrib><creatorcontrib>ROUGHLEY, P. J</creatorcontrib><creatorcontrib>GRUBER, H. E</creatorcontrib><creatorcontrib>WARMAN, M. L</creatorcontrib><creatorcontrib>OLSEN, B. R</creatorcontrib><creatorcontrib>HSIA, Y. E</creatorcontrib><creatorcontrib>YUEN, J</creatorcontrib><creatorcontrib>REINKER, K</creatorcontrib><title>A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia : exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiphyseal dysplasia in adults. Electron microscopic examination of cartilage reveals accumulation of material within the rough endoplasmic reticulum similar to that seen in pseudoachondroplasia and the Fairbank type of multiple epiphyseal dysplasia. By linkage analysis, we have excluded the genes for aggrecan, decorin, hexabrachion (tenascin), type II procollagen, the alpha 1 chain of type XI procollagen, the alpha 1 chain of type IX procollagen, and link protein, candidate genes that encode structural components of the cartilage extracellular matrix, as the disease locus for this disorder.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Achondroplasia - diagnostic imaging</subject><subject>Achondroplasia - genetics</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Cartilage - metabolism</subject><subject>Cartilage - ultrastructure</subject><subject>Cell Line</subject><subject>Child</subject><subject>Diseases of the osteoarticular system</subject><subject>Extracellular Matrix Proteins - genetics</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>Inclusion Bodies - ultrastructure</subject><subject>Infant</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Osteochondrodysplasias - diagnostic imaging</subject><subject>Osteochondrodysplasias - genetics</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Radiography</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkU1v1DAQhi0EKtvChTuSD4hDpYA_kjjhVioKSJW4wDmatceNkRMH2ym7f41fh5dG5TSy5vE7j_QS8oqzd5wx9f7jDWOCC8abJ2THaymq8pBPyY7JmlWt4uo5OU_pJytEL5ozcqZ6piTnO_LninqId0gtTM4f6W-XR2oR8hox0WDpknA1AfQYZhPD4iE5oDAbOq0-u8UjxcUt4zEheGqOaSM-UDxovyYX5lNKwnucqS7_nIGM9A5npD5oR_MImeKsg0G6xJDRzf_u5hELH7PzUOzwkCNo9H4ttnSCHN3hBXlmwSd8uc0L8uPm0_frL9Xtt89fr69uKy1EmyvsOm4k153G1jZSKqNbW3OpBJrGdlbUsJc15wZBNZ0wne1N3QvNALjaK5AX5O1DbtH7tWLKw-TSyQVmDGsaVCu7ugQU8PIB1DGkFNEOS3QTxOPA2XAqavhfVIFfb6nrfkLziG7NlP2bbQ9Jg7cRZu3SIyb7pkgy-RcH9Z8c</recordid><startdate>199403</startdate><enddate>199403</enddate><creator>RIMOIN, D. 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Joint deformations</topic><topic>Medical sciences</topic><topic>Osteochondrodysplasias - diagnostic imaging</topic><topic>Osteochondrodysplasias - genetics</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Radiography</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>RIMOIN, D. L</creatorcontrib><creatorcontrib>RASMUSSEN, I. M</creatorcontrib><creatorcontrib>GARBER, A. P</creatorcontrib><creatorcontrib>GROVER, J</creatorcontrib><creatorcontrib>LACHMAN, R. S</creatorcontrib><creatorcontrib>COHN, D. H</creatorcontrib><creatorcontrib>BRIGGS, M. D</creatorcontrib><creatorcontrib>ROUGHLEY, P. J</creatorcontrib><creatorcontrib>GRUBER, H. E</creatorcontrib><creatorcontrib>WARMAN, M. L</creatorcontrib><creatorcontrib>OLSEN, B. R</creatorcontrib><creatorcontrib>HSIA, Y. 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E</au><au>YUEN, J</au><au>REINKER, K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia : exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1994-03</date><risdate>1994</risdate><volume>93</volume><issue>3</issue><spage>236</spage><epage>242</epage><pages>236-242</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiphyseal dysplasia in adults. Electron microscopic examination of cartilage reveals accumulation of material within the rough endoplasmic reticulum similar to that seen in pseudoachondroplasia and the Fairbank type of multiple epiphyseal dysplasia. By linkage analysis, we have excluded the genes for aggrecan, decorin, hexabrachion (tenascin), type II procollagen, the alpha 1 chain of type XI procollagen, the alpha 1 chain of type IX procollagen, and link protein, candidate genes that encode structural components of the cartilage extracellular matrix, as the disease locus for this disorder.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>7907311</pmid><doi>10.1007/BF00212015</doi><tpages>7</tpages></addata></record> |
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subjects | Abnormalities, Multiple - genetics Achondroplasia - diagnostic imaging Achondroplasia - genetics Adolescent Adult Biological and medical sciences Cartilage - metabolism Cartilage - ultrastructure Cell Line Child Diseases of the osteoarticular system Extracellular Matrix Proteins - genetics Female Genetic Linkage Humans Inclusion Bodies - ultrastructure Infant Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Osteochondrodysplasias - diagnostic imaging Osteochondrodysplasias - genetics Pedigree Polymerase Chain Reaction Polymorphism, Genetic Polymorphism, Restriction Fragment Length Radiography |
title | A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia : exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix |
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