A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome
We report on two sisters with a history of muscle weakness and an electromyogram (EMG) diagnosis of Kugelberg‐Welander syndrome (KWS) or juvenile spinal muscular atrophy. A half‐brother to these women was diagnosed to have Duchenne muscular dystrophy (DMD). Using molecular probes, we identified a de...
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| Veröffentlicht in: | American journal of medical genetics 1988-02, Vol.29 (2), p.419-423 |
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| container_end_page | 423 |
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| container_title | American journal of medical genetics |
| container_volume | 29 |
| creator | Wood, Stephen Shukin, Robert J. McGillivray, Barbara C. Ray, Peter N. Worton, Ronald G. Optiz, John M. Reynolds, James F. |
| description | We report on two sisters with a history of muscle weakness and an electromyogram (EMG) diagnosis of Kugelberg‐Welander syndrome (KWS) or juvenile spinal muscular atrophy. A half‐brother to these women was diagnosed to have Duchenne muscular dystrophy (DMD). Using molecular probes, we identified a deletion within Xp2l in this isolated case of DMD. Sequences detected by pXJ1.1 are deleted, while fragments detected by pERT87 are intact. Both of these probes are derived from the DMD locus. We have shown that the affected sisters share with their half‐brother DNA markers that are linked to the DMD gene and inherited from their maternal grandfather. Dosage analysis of Southern blots show monosomy for pXJ1.1, which has allowed us to determine carrier status within this family and to show that the half‐sisters are manifesting DMD carriers. |
| doi_str_mv | 10.1002/ajmg.1320290225 |
| format | Article |
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A half‐brother to these women was diagnosed to have Duchenne muscular dystrophy (DMD). Using molecular probes, we identified a deletion within Xp2l in this isolated case of DMD. Sequences detected by pXJ1.1 are deleted, while fragments detected by pERT87 are intact. Both of these probes are derived from the DMD locus. We have shown that the affected sisters share with their half‐brother DNA markers that are linked to the DMD gene and inherited from their maternal grandfather. Dosage analysis of Southern blots show monosomy for pXJ1.1, which has allowed us to determine carrier status within this family and to show that the half‐sisters are manifesting DMD carriers.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320290225</identifier><identifier>PMID: 2895584</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Biological and medical sciences ; Chromosome Deletion ; delX(p21) ; Diseases of striated muscles. Neuromuscular diseases ; Duchenne muscular dystrophy ; genetic markers ; Heterozygote ; Medical sciences ; Muscular Diseases - genetics ; Muscular Dystrophies - genetics ; Neurology ; Pedigree ; pERT87 ; Polymorphism, Restriction Fragment Length ; Sex Chromosome Aberrations - genetics ; spinal muscular atrophy ; Syndrome ; X Chromosome</subject><ispartof>American journal of medical genetics, 1988-02, Vol.29 (2), p.419-423</ispartof><rights>Copyright © 1988 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1989 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3265-a635841ee0f6b4f6cc6cf30c052e07e64617944b426963967ce4e382882599773</citedby><cites>FETCH-LOGICAL-c3265-a635841ee0f6b4f6cc6cf30c052e07e64617944b426963967ce4e382882599773</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7171518$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2895584$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wood, Stephen</creatorcontrib><creatorcontrib>Shukin, Robert J.</creatorcontrib><creatorcontrib>McGillivray, Barbara C.</creatorcontrib><creatorcontrib>Ray, Peter N.</creatorcontrib><creatorcontrib>Worton, Ronald G.</creatorcontrib><creatorcontrib>Optiz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><title>A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>We report on two sisters with a history of muscle weakness and an electromyogram (EMG) diagnosis of Kugelberg‐Welander syndrome (KWS) or juvenile spinal muscular atrophy. A half‐brother to these women was diagnosed to have Duchenne muscular dystrophy (DMD). Using molecular probes, we identified a deletion within Xp2l in this isolated case of DMD. Sequences detected by pXJ1.1 are deleted, while fragments detected by pERT87 are intact. Both of these probes are derived from the DMD locus. We have shown that the affected sisters share with their half‐brother DNA markers that are linked to the DMD gene and inherited from their maternal grandfather. Dosage analysis of Southern blots show monosomy for pXJ1.1, which has allowed us to determine carrier status within this family and to show that the half‐sisters are manifesting DMD carriers.</description><subject>Biological and medical sciences</subject><subject>Chromosome Deletion</subject><subject>delX(p21)</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Duchenne muscular dystrophy</subject><subject>genetic markers</subject><subject>Heterozygote</subject><subject>Medical sciences</subject><subject>Muscular Diseases - genetics</subject><subject>Muscular Dystrophies - genetics</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>pERT87</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Sex Chromosome Aberrations - genetics</subject><subject>spinal muscular atrophy</subject><subject>Syndrome</subject><subject>X Chromosome</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE9v1DAQxS1EVbaFMyckHxC3tLaT-I84rQpd2i7lApSb5XUmwcVxgp1t2U_A18btrhZx4jTSzO-9eXoIvaTkhBLCTs1t353QkhGmCGP1EzSjRPFCciafohmhlSwEU-oZOkrplhCaF-wQHTKp6lpWM_R7jrtoQjOaCWIw3m9wA9HdQZMnDsPdkKeHyQ0B37vpuwv428godsFN7hEfIyQIkwtdXmJrYnQQcQu98ZBw40wXhpTtTMJX6w78CmJX3IDPTzOXNqGJQw_P0UFrfIIXu3mMvpy__3z2oVh-WlyczZeFLRmvC8PLHJsCkJavqpZby21bEktqBkQArzgVqqpWFeOKl4oLCxWUkknJaqWEKI_Rm63vGIefa0iT7l2y4HMcGNZJC0k5ZZxk8HQL2jikFKHVY3S9iRtNiX6oXj9Ur_9WnxWvdtbrVQ_Nnt91ne-vd3eTrPFtrt26tMcEFbSmMmNvt9i987D531c9v_y4-CdEsVW7NMGvvdrEH5qLUtT65nqh3ym2vL4ktf5a_gHuSa2g</recordid><startdate>198802</startdate><enddate>198802</enddate><creator>Wood, Stephen</creator><creator>Shukin, Robert J.</creator><creator>McGillivray, Barbara C.</creator><creator>Ray, Peter N.</creator><creator>Worton, Ronald G.</creator><creator>Optiz, John M.</creator><creator>Reynolds, James F.</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>7X8</scope></search><sort><creationdate>198802</creationdate><title>A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome</title><author>Wood, Stephen ; Shukin, Robert J. ; McGillivray, Barbara C. ; Ray, Peter N. ; Worton, Ronald G. ; Optiz, John M. ; Reynolds, James F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3265-a635841ee0f6b4f6cc6cf30c052e07e64617944b426963967ce4e382882599773</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1988</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Deletion</topic><topic>delX(p21)</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>Duchenne muscular dystrophy</topic><topic>genetic markers</topic><topic>Heterozygote</topic><topic>Medical sciences</topic><topic>Muscular Diseases - genetics</topic><topic>Muscular Dystrophies - genetics</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>pERT87</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Sex Chromosome Aberrations - genetics</topic><topic>spinal muscular atrophy</topic><topic>Syndrome</topic><topic>X Chromosome</topic><toplevel>online_resources</toplevel><creatorcontrib>Wood, Stephen</creatorcontrib><creatorcontrib>Shukin, Robert J.</creatorcontrib><creatorcontrib>McGillivray, Barbara C.</creatorcontrib><creatorcontrib>Ray, Peter N.</creatorcontrib><creatorcontrib>Worton, Ronald G.</creatorcontrib><creatorcontrib>Optiz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><collection>Istex</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><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wood, Stephen</au><au>Shukin, Robert J.</au><au>McGillivray, Barbara C.</au><au>Ray, Peter N.</au><au>Worton, Ronald G.</au><au>Optiz, John M.</au><au>Reynolds, James F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1988-02</date><risdate>1988</risdate><volume>29</volume><issue>2</issue><spage>419</spage><epage>423</epage><pages>419-423</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on two sisters with a history of muscle weakness and an electromyogram (EMG) diagnosis of Kugelberg‐Welander syndrome (KWS) or juvenile spinal muscular atrophy. A half‐brother to these women was diagnosed to have Duchenne muscular dystrophy (DMD). Using molecular probes, we identified a deletion within Xp2l in this isolated case of DMD. Sequences detected by pXJ1.1 are deleted, while fragments detected by pERT87 are intact. Both of these probes are derived from the DMD locus. We have shown that the affected sisters share with their half‐brother DNA markers that are linked to the DMD gene and inherited from their maternal grandfather. Dosage analysis of Southern blots show monosomy for pXJ1.1, which has allowed us to determine carrier status within this family and to show that the half‐sisters are manifesting DMD carriers.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>2895584</pmid><doi>10.1002/ajmg.1320290225</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1988-02, Vol.29 (2), p.419-423 |
| issn | 0148-7299 1096-8628 |
| language | eng |
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| subjects | Biological and medical sciences Chromosome Deletion delX(p21) Diseases of striated muscles. Neuromuscular diseases Duchenne muscular dystrophy genetic markers Heterozygote Medical sciences Muscular Diseases - genetics Muscular Dystrophies - genetics Neurology Pedigree pERT87 Polymorphism, Restriction Fragment Length Sex Chromosome Aberrations - genetics spinal muscular atrophy Syndrome X Chromosome |
| title | A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome |
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