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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Human genetics 1994-03, Vol.93 (3), p.236-242
Hauptverfasser: 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
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 242
container_issue 3
container_start_page 236
container_title Human genetics
container_volume 93
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
format Article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_76384411</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>76384411</sourcerecordid><originalsourceid>FETCH-LOGICAL-c226t-e881d31c8ce6f5337dc6f41372ed5f8f24ab3411dea7582d8f9d492c0aa17b7a3</originalsourceid><addsrcrecordid>eNpFkU1v1DAQhi0EKtvChTuSD4hDpYA_kjjhVioKSJW4wDmatceNkRMH2ym7f41fh5dG5TSy5vE7j_QS8oqzd5wx9f7jDWOCC8abJ2THaymq8pBPyY7JmlWt4uo5OU_pJytEL5ozcqZ6piTnO_LninqId0gtTM4f6W-XR2oR8hox0WDpknA1AfQYZhPD4iE5oDAbOq0-u8UjxcUt4zEheGqOaSM-UDxovyYX5lNKwnucqS7_nIGM9A5npD5oR_MImeKsg0G6xJDRzf_u5hELH7PzUOzwkCNo9H4ttnSCHN3hBXlmwSd8uc0L8uPm0_frL9Xtt89fr69uKy1EmyvsOm4k153G1jZSKqNbW3OpBJrGdlbUsJc15wZBNZ0wne1N3QvNALjaK5AX5O1DbtH7tWLKw-TSyQVmDGsaVCu7ugQU8PIB1DGkFNEOS3QTxOPA2XAqavhfVIFfb6nrfkLziG7NlP2bbQ9Jg7cRZu3SIyb7pkgy-RcH9Z8c</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>76384411</pqid></control><display><type>article</type><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><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><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</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&amp;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. L</creator><creator>RASMUSSEN, I. M</creator><creator>GARBER, A. P</creator><creator>GROVER, J</creator><creator>LACHMAN, R. S</creator><creator>COHN, D. H</creator><creator>BRIGGS, M. D</creator><creator>ROUGHLEY, P. J</creator><creator>GRUBER, H. E</creator><creator>WARMAN, M. L</creator><creator>OLSEN, B. R</creator><creator>HSIA, Y. E</creator><creator>YUEN, J</creator><creator>REINKER, K</creator><general>Springer</general><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></search><sort><creationdate>199403</creationdate><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><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c226t-e881d31c8ce6f5337dc6f41372ed5f8f24ab3411dea7582d8f9d492c0aa17b7a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Achondroplasia - diagnostic imaging</topic><topic>Achondroplasia - genetics</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Cartilage - metabolism</topic><topic>Cartilage - ultrastructure</topic><topic>Cell Line</topic><topic>Child</topic><topic>Diseases of the osteoarticular system</topic><topic>Extracellular Matrix Proteins - genetics</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Humans</topic><topic>Inclusion Bodies - ultrastructure</topic><topic>Infant</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. 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. E</creatorcontrib><creatorcontrib>YUEN, J</creatorcontrib><creatorcontrib>REINKER, K</creatorcontrib><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><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>RIMOIN, D. L</au><au>RASMUSSEN, I. M</au><au>GARBER, A. P</au><au>GROVER, J</au><au>LACHMAN, R. S</au><au>COHN, D. H</au><au>BRIGGS, M. D</au><au>ROUGHLEY, P. J</au><au>GRUBER, H. E</au><au>WARMAN, M. L</au><au>OLSEN, B. R</au><au>HSIA, Y. 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>
fulltext fulltext
identifier ISSN: 0340-6717
ispartof Human genetics, 1994-03, Vol.93 (3), p.236-242
issn 0340-6717
1432-1203
language eng
recordid cdi_proquest_miscellaneous_76384411
source MEDLINE; Springer Nature - Complete Springer Journals
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
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-15T18%3A50%3A19IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20large%20family%20with%20features%20of%20pseudoachondroplasia%20and%20multiple%20epiphyseal%20dysplasia%20:%20exclusion%20of%20seven%20candidate%20gene%20loci%20that%20encode%20proteins%20of%20the%20cartilage%20extracellular%20matrix&rft.jtitle=Human%20genetics&rft.au=RIMOIN,%20D.%20L&rft.date=1994-03&rft.volume=93&rft.issue=3&rft.spage=236&rft.epage=242&rft.pages=236-242&rft.issn=0340-6717&rft.eissn=1432-1203&rft.coden=HUGEDQ&rft_id=info:doi/10.1007/BF00212015&rft_dat=%3Cproquest_cross%3E76384411%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=76384411&rft_id=info:pmid/7907311&rfr_iscdi=true