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Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia
Previously, our group reported a five-generation family in which a balanced t(13;17) translocation is associated with a spectrum of skeletal abnormalities, including Robin sequence, hypoplastic scapulae, and a missing pair of ribs. Using polymerase chain reaction (PCR) with chromosome-specific marke...
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| Published in: | American journal of human genetics 2005-04, Vol.76 (4), p.663-671 |
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| container_issue | 4 |
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| container_title | American journal of human genetics |
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| creator | Hill-Harfe, Katherine L. Kaplan, Lee Stalker, Heather J. Zori, Roberto T. Pop, Ramona Scherer, Gerd Wallace, Margaret R. |
| description | Previously, our group reported a five-generation family in which a balanced t(13;17) translocation is associated with a spectrum of skeletal abnormalities, including Robin sequence, hypoplastic scapulae, and a missing pair of ribs. Using polymerase chain reaction (PCR) with chromosome-specific markers to analyze DNA from somatic cell hybrids containing the derivative translocation chromosomes, we narrowed the breakpoint on each chromosome. Subsequent sequencing of PCR products spanning the breakpoints identified the breaks precisely. The chromosome 17 breakpoint maps ∼932 kb upstream of the sex-determining region Y (
SRY)–related high-mobility group b
ox gene (
SOX9) within a noncoding transcript represented by two IMAGE cDNA clones. A growing number of reports have implicated chromosome 17 breakpoints at a distance of up to 1 Mb from
SOX9 in some cases of campomelic dysplasia (CD). Although this multigeneration family has a disorder that shares some features with CD, their phenotype is significantly milder than any reported cases of (nonmosaic) CD. Therefore, this case may represent an etiologically distinct skeletal dysplasia or may be an extremely mild familial example of CD, caused by the most proximal translocation breakpoint from
SOX9 reported to date. In addition, we have refined the breakpoint in an acampomelic CD case described elsewhere and have found that it lies ∼900 kb upstream of
SOX9. |
| doi_str_mv | 10.1086/429254 |
| format | article |
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SRY)–related high-mobility group b
ox gene (
SOX9) within a noncoding transcript represented by two IMAGE cDNA clones. A growing number of reports have implicated chromosome 17 breakpoints at a distance of up to 1 Mb from
SOX9 in some cases of campomelic dysplasia (CD). Although this multigeneration family has a disorder that shares some features with CD, their phenotype is significantly milder than any reported cases of (nonmosaic) CD. Therefore, this case may represent an etiologically distinct skeletal dysplasia or may be an extremely mild familial example of CD, caused by the most proximal translocation breakpoint from
SOX9 reported to date. In addition, we have refined the breakpoint in an acampomelic CD case described elsewhere and have found that it lies ∼900 kb upstream of
SOX9.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/429254</identifier><identifier>PMID: 15717285</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>Base Sequence ; Biological and medical sciences ; Bone Diseases, Developmental - genetics ; Chromosome aberrations ; Chromosome Breakage ; Chromosome Mapping ; Chromosomes ; Chromosomes, Human, Pair 17 ; Deoxyribonucleic acid ; Diseases of the osteoarticular system ; DNA ; General aspects. Genetic counseling ; Genomics ; High Mobility Group Proteins - genetics ; Humans ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical genetics ; Medical sciences ; Molecular Sequence Data ; Skeletal system ; SOX9 Transcription Factor ; Transcription Factors - genetics ; Translocation, Genetic</subject><ispartof>American journal of human genetics, 2005-04, Vol.76 (4), p.663-671</ispartof><rights>2005 The American Society of Human Genetics</rights><rights>2005 INIST-CNRS</rights><rights>Copyright University of Chicago, acting through its Press Apr 2005</rights><rights>2005 by The American Society of Human Genetics. All rights reserved. 2005</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c528t-304d1d29043e2574eb2022e4c6a297d25e7ca411361e3446b10465086cdc4de03</citedby><cites>FETCH-LOGICAL-c528t-304d1d29043e2574eb2022e4c6a297d25e7ca411361e3446b10465086cdc4de03</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/PMC1199303/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199303/$$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=16691577$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15717285$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hill-Harfe, Katherine L.</creatorcontrib><creatorcontrib>Kaplan, Lee</creatorcontrib><creatorcontrib>Stalker, Heather J.</creatorcontrib><creatorcontrib>Zori, Roberto T.</creatorcontrib><creatorcontrib>Pop, Ramona</creatorcontrib><creatorcontrib>Scherer, Gerd</creatorcontrib><creatorcontrib>Wallace, Margaret R.</creatorcontrib><title>Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Previously, our group reported a five-generation family in which a balanced t(13;17) translocation is associated with a spectrum of skeletal abnormalities, including Robin sequence, hypoplastic scapulae, and a missing pair of ribs. Using polymerase chain reaction (PCR) with chromosome-specific markers to analyze DNA from somatic cell hybrids containing the derivative translocation chromosomes, we narrowed the breakpoint on each chromosome. Subsequent sequencing of PCR products spanning the breakpoints identified the breaks precisely. The chromosome 17 breakpoint maps ∼932 kb upstream of the sex-determining region Y (
SRY)–related high-mobility group b
ox gene (
SOX9) within a noncoding transcript represented by two IMAGE cDNA clones. A growing number of reports have implicated chromosome 17 breakpoints at a distance of up to 1 Mb from
SOX9 in some cases of campomelic dysplasia (CD). Although this multigeneration family has a disorder that shares some features with CD, their phenotype is significantly milder than any reported cases of (nonmosaic) CD. Therefore, this case may represent an etiologically distinct skeletal dysplasia or may be an extremely mild familial example of CD, caused by the most proximal translocation breakpoint from
SOX9 reported to date. In addition, we have refined the breakpoint in an acampomelic CD case described elsewhere and have found that it lies ∼900 kb upstream of
SOX9.</description><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Bone Diseases, Developmental - genetics</subject><subject>Chromosome aberrations</subject><subject>Chromosome Breakage</subject><subject>Chromosome Mapping</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Deoxyribonucleic acid</subject><subject>Diseases of the osteoarticular system</subject><subject>DNA</subject><subject>General aspects. Genetic counseling</subject><subject>Genomics</subject><subject>High Mobility Group Proteins - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Skeletal system</subject><subject>SOX9 Transcription Factor</subject><subject>Transcription Factors - genetics</subject><subject>Translocation, Genetic</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><recordid>eNpdkc9uEzEQxi0EoqHAIyALCU4Exl6vN75UKoEAolUPbSVulmNPWrdee7E3lfoy3HkJHoYnwVWiBjjNSPObb_58hDxn8JbBTL4TXPFWPCAT1jbdVEpoH5IJAPCp4qrbI09KuQJgbAbNY7LH2o51fNZOyI-Fj0iPzTD4eEHTis4vc-pTST1S1tGzbGIJyZrRp0jfZzTXQ_JxLPT3z18KgH5d0vOhjLXQ33WfnnxT1Ed6aE0_VI3gLZ3v0g-3ZQimeENNdNTQYx_cG7owvQ_eBHp6jQHHmtxzT8mjlQkFn23jPjlffDybf54enXz6Mj88mtqWz8ZpA8IxxxWIBnnbCVxy4ByFlaZe73iLnTWCsUYybISQSwZCtvVv1lnhEJp9crDRHdbLHp3FOGYT9JB9b_KtTsbrfyvRX-qLdKMZU6qBpgq83Ark9H2NZdRXaZ1j3VlzpiTvQMkKvd5ANqdSMq7uBzDQdzbqjY0VfPH3Ojts61sFXm0BU6wJq2qT9WXHSakq21UONhzW5914zLpYj9Gi8xntqF3y_8_-A1P0tVM</recordid><startdate>20050401</startdate><enddate>20050401</enddate><creator>Hill-Harfe, Katherine L.</creator><creator>Kaplan, Lee</creator><creator>Stalker, Heather J.</creator><creator>Zori, Roberto T.</creator><creator>Pop, Ramona</creator><creator>Scherer, Gerd</creator><creator>Wallace, Margaret R.</creator><general>Elsevier Inc</general><general>University of Chicago Press</general><general>Cell Press</general><general>The American Society of Human Genetics</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>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope></search><sort><creationdate>20050401</creationdate><title>Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia</title><author>Hill-Harfe, Katherine L. ; Kaplan, Lee ; Stalker, Heather J. ; Zori, Roberto T. ; Pop, Ramona ; Scherer, Gerd ; Wallace, Margaret R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c528t-304d1d29043e2574eb2022e4c6a297d25e7ca411361e3446b10465086cdc4de03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Bone Diseases, Developmental - genetics</topic><topic>Chromosome aberrations</topic><topic>Chromosome Breakage</topic><topic>Chromosome Mapping</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Deoxyribonucleic acid</topic><topic>Diseases of the osteoarticular system</topic><topic>DNA</topic><topic>General aspects. Genetic counseling</topic><topic>Genomics</topic><topic>High Mobility Group Proteins - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Skeletal system</topic><topic>SOX9 Transcription Factor</topic><topic>Transcription Factors - genetics</topic><topic>Translocation, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hill-Harfe, Katherine L.</creatorcontrib><creatorcontrib>Kaplan, Lee</creatorcontrib><creatorcontrib>Stalker, Heather J.</creatorcontrib><creatorcontrib>Zori, Roberto T.</creatorcontrib><creatorcontrib>Pop, Ramona</creatorcontrib><creatorcontrib>Scherer, Gerd</creatorcontrib><creatorcontrib>Wallace, Margaret R.</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>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</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>Hill-Harfe, Katherine L.</au><au>Kaplan, Lee</au><au>Stalker, Heather J.</au><au>Zori, Roberto T.</au><au>Pop, Ramona</au><au>Scherer, Gerd</au><au>Wallace, Margaret R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2005-04-01</date><risdate>2005</risdate><volume>76</volume><issue>4</issue><spage>663</spage><epage>671</epage><pages>663-671</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Previously, our group reported a five-generation family in which a balanced t(13;17) translocation is associated with a spectrum of skeletal abnormalities, including Robin sequence, hypoplastic scapulae, and a missing pair of ribs. 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SRY)–related high-mobility group b
ox gene (
SOX9) within a noncoding transcript represented by two IMAGE cDNA clones. A growing number of reports have implicated chromosome 17 breakpoints at a distance of up to 1 Mb from
SOX9 in some cases of campomelic dysplasia (CD). Although this multigeneration family has a disorder that shares some features with CD, their phenotype is significantly milder than any reported cases of (nonmosaic) CD. Therefore, this case may represent an etiologically distinct skeletal dysplasia or may be an extremely mild familial example of CD, caused by the most proximal translocation breakpoint from
SOX9 reported to date. In addition, we have refined the breakpoint in an acampomelic CD case described elsewhere and have found that it lies ∼900 kb upstream of
SOX9.</abstract><cop>Chicago, IL</cop><pub>Elsevier Inc</pub><pmid>15717285</pmid><doi>10.1086/429254</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| source | BACON - Elsevier - GLOBAL_SCIENCEDIRECT-OPENACCESS; Open Access: PubMed Central |
| subjects | Base Sequence Biological and medical sciences Bone Diseases, Developmental - genetics Chromosome aberrations Chromosome Breakage Chromosome Mapping Chromosomes Chromosomes, Human, Pair 17 Deoxyribonucleic acid Diseases of the osteoarticular system DNA General aspects. Genetic counseling Genomics High Mobility Group Proteins - genetics Humans Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences Molecular Sequence Data Skeletal system SOX9 Transcription Factor Transcription Factors - genetics Translocation, Genetic |
| title | Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia |
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