Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28
Barth syndrome is an X‐linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE)...
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| Veröffentlicht in: | American journal of medical genetics 1993-02, Vol.45 (3), p.327-334 |
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| container_title | American journal of medical genetics |
| container_volume | 45 |
| creator | Adès, L. C. Gedeon, A. K. Wilson, M. J. Latham, M. Partington, M. W. Mulley, J. C. Nelson, J. Lui, K. Sillence, D. O. |
| description | Barth syndrome is an X‐linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, θ = 0.0). The family was non‐recombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome. © 1993 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320450309 |
| format | Article |
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C. ; Gedeon, A. K. ; Wilson, M. J. ; Latham, M. ; Partington, M. W. ; Mulley, J. C. ; Nelson, J. ; Lui, K. ; Sillence, D. O.</creator><creatorcontrib>Adès, L. C. ; Gedeon, A. K. ; Wilson, M. J. ; Latham, M. ; Partington, M. W. ; Mulley, J. C. ; Nelson, J. ; Lui, K. ; Sillence, D. O.</creatorcontrib><description>Barth syndrome is an X‐linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, θ = 0.0). The family was non‐recombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome. © 1993 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320450309</identifier><identifier>PMID: 8434619</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Barth syndrome ; Biological and medical sciences ; Cardiomyopathies - genetics ; Child ; Child, Preschool ; Chromosome Mapping ; Complex syndromes ; distal Xq28 ; DNA - genetics ; Genetic Linkage ; Genetic Markers ; Humans ; Infant ; Infant, Newborn ; linkage ; linkage analysis ; Male ; man ; Medical genetics ; Medical sciences ; Muscular Diseases - genetics ; neutropenia ; Neutropenia - genetics ; Pedigree ; short stature ; Syndrome ; X Chromosome ; X-linked cardiomyopathy</subject><ispartof>American journal of medical genetics, 1993-02, Vol.45 (3), p.327-334</ispartof><rights>Copyright © 1993 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1993 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4429-2b6fc0b71fb2a96185c464073887bf18c5d14fddfa5c0d3b43ceba76084618e13</citedby><cites>FETCH-LOGICAL-c4429-2b6fc0b71fb2a96185c464073887bf18c5d14fddfa5c0d3b43ceba76084618e13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4561304$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8434619$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Adès, L. C.</creatorcontrib><creatorcontrib>Gedeon, A. K.</creatorcontrib><creatorcontrib>Wilson, M. J.</creatorcontrib><creatorcontrib>Latham, M.</creatorcontrib><creatorcontrib>Partington, M. W.</creatorcontrib><creatorcontrib>Mulley, J. C.</creatorcontrib><creatorcontrib>Nelson, J.</creatorcontrib><creatorcontrib>Lui, K.</creatorcontrib><creatorcontrib>Sillence, D. O.</creatorcontrib><title>Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Barth syndrome is an X‐linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, θ = 0.0). The family was non‐recombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome. © 1993 Wiley‐Liss, Inc.</description><subject>Barth syndrome</subject><subject>Biological and medical sciences</subject><subject>Cardiomyopathies - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Mapping</subject><subject>Complex syndromes</subject><subject>distal Xq28</subject><subject>DNA - genetics</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>linkage</subject><subject>linkage analysis</subject><subject>Male</subject><subject>man</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Muscular Diseases - genetics</subject><subject>neutropenia</subject><subject>Neutropenia - genetics</subject><subject>Pedigree</subject><subject>short stature</subject><subject>Syndrome</subject><subject>X Chromosome</subject><subject>X-linked cardiomyopathy</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1v1DAQhi0EKkvhzAnJB8Qt7fgzDpzKUrZAAQmVj5vlOHZxm8StnVXZf49XWS3i1JOlmecdj55B6DmBIwJAj83VcHlEGAUugEHzAC0INLJSkqqHaAGEq6qmTfMYPcn5CoCUAj1AB4ozLkmzQD_emjT9xnkzdikO7jVe9mEM1vTYOzOtk8vYjB22cfQhDWYKccTR40s3OtzHwoU8F6eIu5CnEvx1S9VT9MibPrtnu_cQfX9_erE8q86_rj4sT84ryzltKtpKb6GtiW-paSRRwnLJoWZK1a0nyoqOcN913ggLHWs5s641tQRVtleOsEP0ap57k-Lt2uVJDyFb1_dmdHGddS1EA4zTe0EimQJJt-DxDNoUc07O65sUBpM2moDeKtdb5fqf8pJ4sRu9bgfX7fmd49J_ueubXIT5ZEYb8h7jQhIGvGBvZuwu9G5z36_65OPn1X9LVHO63MD92adNutayZrXQP7-s9LuLb5_omWRasL-1pKks</recordid><startdate>19930201</startdate><enddate>19930201</enddate><creator>Adès, L. C.</creator><creator>Gedeon, A. K.</creator><creator>Wilson, M. J.</creator><creator>Latham, M.</creator><creator>Partington, M. W.</creator><creator>Mulley, J. C.</creator><creator>Nelson, J.</creator><creator>Lui, K.</creator><creator>Sillence, D. O.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>19930201</creationdate><title>Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28</title><author>Adès, L. C. ; Gedeon, A. K. ; Wilson, M. J. ; Latham, M. ; Partington, M. W. ; Mulley, J. C. ; Nelson, J. ; Lui, K. ; Sillence, D. O.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4429-2b6fc0b71fb2a96185c464073887bf18c5d14fddfa5c0d3b43ceba76084618e13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Barth syndrome</topic><topic>Biological and medical sciences</topic><topic>Cardiomyopathies - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Mapping</topic><topic>Complex syndromes</topic><topic>distal Xq28</topic><topic>DNA - genetics</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>linkage</topic><topic>linkage analysis</topic><topic>Male</topic><topic>man</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Muscular Diseases - genetics</topic><topic>neutropenia</topic><topic>Neutropenia - genetics</topic><topic>Pedigree</topic><topic>short stature</topic><topic>Syndrome</topic><topic>X Chromosome</topic><topic>X-linked cardiomyopathy</topic><toplevel>online_resources</toplevel><creatorcontrib>Adès, L. C.</creatorcontrib><creatorcontrib>Gedeon, A. K.</creatorcontrib><creatorcontrib>Wilson, M. J.</creatorcontrib><creatorcontrib>Latham, M.</creatorcontrib><creatorcontrib>Partington, M. W.</creatorcontrib><creatorcontrib>Mulley, J. C.</creatorcontrib><creatorcontrib>Nelson, J.</creatorcontrib><creatorcontrib>Lui, K.</creatorcontrib><creatorcontrib>Sillence, D. 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O.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1993-02-01</date><risdate>1993</risdate><volume>45</volume><issue>3</issue><spage>327</spage><epage>334</epage><pages>327-334</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Barth syndrome is an X‐linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, θ = 0.0). The family was non‐recombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome. © 1993 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>8434619</pmid><doi>10.1002/ajmg.1320450309</doi><tpages>8</tpages></addata></record> |
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| subjects | Barth syndrome Biological and medical sciences Cardiomyopathies - genetics Child Child, Preschool Chromosome Mapping Complex syndromes distal Xq28 DNA - genetics Genetic Linkage Genetic Markers Humans Infant Infant, Newborn linkage linkage analysis Male man Medical genetics Medical sciences Muscular Diseases - genetics neutropenia Neutropenia - genetics Pedigree short stature Syndrome X Chromosome X-linked cardiomyopathy |
| title | Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28 |
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