Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect
Identifieur interne : 003D67 ( Pmc/Checkpoint ); précédent : 003D66; suivant : 003D68Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect
Auteurs : P. Brouillard ; M. Ghassibe ; A. Penington ; L. Boon ; A. Dompmartin ; I. Temple ; M. Cordisco ; D. Adams ; F. Piette ; J. Harper ; S. Syed ; F. Boralevi ; A. Taieb ; S. Danda ; E. Baselga ; O. Enjolras ; J. Mulliken ; M. VikkulaSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2005.
Abstract
Url:
DOI: 10.1136/jmg.2004.024174
PubMed: 15689436
PubMed Central: 1735996
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect</title>
<author><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P" last="Brouillard">P. Brouillard</name>
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<author><name sortKey="Ghassibe, M" sort="Ghassibe, M" uniqKey="Ghassibe M" first="M" last="Ghassibe">M. Ghassibe</name>
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<author><name sortKey="Penington, A" sort="Penington, A" uniqKey="Penington A" first="A" last="Penington">A. Penington</name>
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<author><name sortKey="Boon, L" sort="Boon, L" uniqKey="Boon L" first="L" last="Boon">L. Boon</name>
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<author><name sortKey="Dompmartin, A" sort="Dompmartin, A" uniqKey="Dompmartin A" first="A" last="Dompmartin">A. Dompmartin</name>
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<author><name sortKey="Temple, I" sort="Temple, I" uniqKey="Temple I" first="I" last="Temple">I. Temple</name>
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<author><name sortKey="Cordisco, M" sort="Cordisco, M" uniqKey="Cordisco M" first="M" last="Cordisco">M. Cordisco</name>
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<author><name sortKey="Adams, D" sort="Adams, D" uniqKey="Adams D" first="D" last="Adams">D. Adams</name>
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<author><name sortKey="Piette, F" sort="Piette, F" uniqKey="Piette F" first="F" last="Piette">F. Piette</name>
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<author><name sortKey="Harper, J" sort="Harper, J" uniqKey="Harper J" first="J" last="Harper">J. Harper</name>
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<author><name sortKey="Syed, S" sort="Syed, S" uniqKey="Syed S" first="S" last="Syed">S. Syed</name>
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<author><name sortKey="Boralevi, F" sort="Boralevi, F" uniqKey="Boralevi F" first="F" last="Boralevi">F. Boralevi</name>
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<author><name sortKey="Taieb, A" sort="Taieb, A" uniqKey="Taieb A" first="A" last="Taieb">A. Taieb</name>
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<author><name sortKey="Danda, S" sort="Danda, S" uniqKey="Danda S" first="S" last="Danda">S. Danda</name>
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<author><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E" last="Baselga">E. Baselga</name>
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<author><name sortKey="Enjolras, O" sort="Enjolras, O" uniqKey="Enjolras O" first="O" last="Enjolras">O. Enjolras</name>
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<author><name sortKey="Mulliken, J" sort="Mulliken, J" uniqKey="Mulliken J" first="J" last="Mulliken">J. Mulliken</name>
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<author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect</title>
<author><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P" last="Brouillard">P. Brouillard</name>
</author>
<author><name sortKey="Ghassibe, M" sort="Ghassibe, M" uniqKey="Ghassibe M" first="M" last="Ghassibe">M. Ghassibe</name>
</author>
<author><name sortKey="Penington, A" sort="Penington, A" uniqKey="Penington A" first="A" last="Penington">A. Penington</name>
</author>
<author><name sortKey="Boon, L" sort="Boon, L" uniqKey="Boon L" first="L" last="Boon">L. Boon</name>
</author>
<author><name sortKey="Dompmartin, A" sort="Dompmartin, A" uniqKey="Dompmartin A" first="A" last="Dompmartin">A. Dompmartin</name>
</author>
<author><name sortKey="Temple, I" sort="Temple, I" uniqKey="Temple I" first="I" last="Temple">I. Temple</name>
</author>
<author><name sortKey="Cordisco, M" sort="Cordisco, M" uniqKey="Cordisco M" first="M" last="Cordisco">M. Cordisco</name>
</author>
<author><name sortKey="Adams, D" sort="Adams, D" uniqKey="Adams D" first="D" last="Adams">D. Adams</name>
</author>
<author><name sortKey="Piette, F" sort="Piette, F" uniqKey="Piette F" first="F" last="Piette">F. Piette</name>
</author>
<author><name sortKey="Harper, J" sort="Harper, J" uniqKey="Harper J" first="J" last="Harper">J. Harper</name>
</author>
<author><name sortKey="Syed, S" sort="Syed, S" uniqKey="Syed S" first="S" last="Syed">S. Syed</name>
</author>
<author><name sortKey="Boralevi, F" sort="Boralevi, F" uniqKey="Boralevi F" first="F" last="Boralevi">F. Boralevi</name>
</author>
<author><name sortKey="Taieb, A" sort="Taieb, A" uniqKey="Taieb A" first="A" last="Taieb">A. Taieb</name>
</author>
<author><name sortKey="Danda, S" sort="Danda, S" uniqKey="Danda S" first="S" last="Danda">S. Danda</name>
</author>
<author><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E" last="Baselga">E. Baselga</name>
</author>
<author><name sortKey="Enjolras, O" sort="Enjolras, O" uniqKey="Enjolras O" first="O" last="Enjolras">O. Enjolras</name>
</author>
<author><name sortKey="Mulliken, J" sort="Mulliken, J" uniqKey="Mulliken J" first="J" last="Mulliken">J. Mulliken</name>
</author>
<author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name>
</author>
</analytic>
<series><title level="j">Journal of Medical Genetics</title>
<idno type="ISSN">0022-2593</idno>
<idno type="eISSN">1468-6244</idno>
<imprint><date when="2005">2005</date>
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<front><div type="abstract" xml:lang="en"><p><bold>Background:</bold>
Glomuvenous malformation (GVM) ("familial glomangioma") is a localised cutaneous vascular lesion histologically characterised by abnormal smooth muscle-like "glomus cells" in the walls of distended endothelium lined channels. Inheritable GVM has been linked to chromosome <italic>1p21-22</italic>
and is caused by truncating mutations in <italic>glomulin</italic>
. A double hit mutation was identified in one lesion. This finding suggests that GVM results from complete localised loss of function and explains the paradominant mode of inheritance. </p>
<p><bold>Objective:</bold>
To report on the identification of a mutation in <italic>glomulin</italic>
in 23 additional families with GVM. </p>
<p><bold>Results:</bold>
Three mutations are new; the others have been described previously. Among the 17 different inherited mutations in <italic>glomulin</italic>
known up to now in 43 families, the <italic>157delAAGAA</italic>
mutation is the most common and was present in 21 families (48.8%). Mutation <italic>108C</italic>
→<italic>A</italic>
was found in five families (11.8%), and the mutations <italic>554delA+556delCCT</italic>
and <italic>1179delCAA</italic>
were present together in two families (4.7% each). Polymorphic markers suggested a founder effect for all four mutations. </p>
<p><bold>Conclusions:</bold>
Screening for these mutations should lead to a genetic diagnosis in about 70% of patients with inherited GVM. So far, a mutation in <italic>glomulin</italic>
has been found in all GVM families tested, thus demonstrating locus homogeneity. </p>
</div>
</front>
</TEI>
<pmc xml:lang="EN" article-type="case-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id>
<journal-title>Journal of Medical Genetics</journal-title>
<issn pub-type="ppub">0022-2593</issn>
<issn pub-type="epub">1468-6244</issn>
<publisher><publisher-name>BMJ Group</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">15689436</article-id>
<article-id pub-id-type="pmc">1735996</article-id>
<article-id pub-id-type="doi">10.1136/jmg.2004.024174</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Online Mutation Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Brouillard</surname>
<given-names>P</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Ghassibe</surname>
<given-names>M</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Penington</surname>
<given-names>A</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Boon</surname>
<given-names>L</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Dompmartin</surname>
<given-names>A</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Temple</surname>
<given-names>I</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Cordisco</surname>
<given-names>M</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Adams</surname>
<given-names>D</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Piette</surname>
<given-names>F</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Harper</surname>
<given-names>J</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Syed</surname>
<given-names>S</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Boralevi</surname>
<given-names>F</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Taieb</surname>
<given-names>A</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Danda</surname>
<given-names>S</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Baselga</surname>
<given-names>E</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Enjolras</surname>
<given-names>O</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Mulliken</surname>
<given-names>J</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Vikkula</surname>
<given-names>M</given-names>
</name>
</contrib>
</contrib-group>
<pub-date pub-type="ppub"><month>2</month>
<year>2005</year>
</pub-date>
<volume>42</volume>
<issue>2</issue>
<fpage>e13</fpage>
<lpage>e13</lpage>
<self-uri xlink:role="pdf" xlink:type="simple" xlink:href="http://jmg.bmj.com/cgi/reprint/42/2/e13.pdf"></self-uri>
<self-uri xlink:role="abstract" xlink:type="simple" xlink:href="http://jmg.bmj.com/cgi/content/abstract/42/2/e13"></self-uri>
<self-uri xlink:role="fulltext" xlink:type="simple" xlink:href="http://jmg.bmj.com/cgi/content/full/42/2/e13"></self-uri>
<abstract><p><bold>Background:</bold>
Glomuvenous malformation (GVM) ("familial glomangioma") is a localised cutaneous vascular lesion histologically characterised by abnormal smooth muscle-like "glomus cells" in the walls of distended endothelium lined channels. Inheritable GVM has been linked to chromosome <italic>1p21-22</italic>
and is caused by truncating mutations in <italic>glomulin</italic>
. A double hit mutation was identified in one lesion. This finding suggests that GVM results from complete localised loss of function and explains the paradominant mode of inheritance. </p>
<p><bold>Objective:</bold>
To report on the identification of a mutation in <italic>glomulin</italic>
in 23 additional families with GVM. </p>
<p><bold>Results:</bold>
Three mutations are new; the others have been described previously. Among the 17 different inherited mutations in <italic>glomulin</italic>
known up to now in 43 families, the <italic>157delAAGAA</italic>
mutation is the most common and was present in 21 families (48.8%). Mutation <italic>108C</italic>
→<italic>A</italic>
was found in five families (11.8%), and the mutations <italic>554delA+556delCCT</italic>
and <italic>1179delCAA</italic>
were present together in two families (4.7% each). Polymorphic markers suggested a founder effect for all four mutations. </p>
<p><bold>Conclusions:</bold>
Screening for these mutations should lead to a genetic diagnosis in about 70% of patients with inherited GVM. So far, a mutation in <italic>glomulin</italic>
has been found in all GVM families tested, thus demonstrating locus homogeneity. </p>
</abstract>
</article-meta>
</front>
</pmc>
<affiliations><list></list>
<tree><noCountry><name sortKey="Adams, D" sort="Adams, D" uniqKey="Adams D" first="D" last="Adams">D. Adams</name>
<name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E" last="Baselga">E. Baselga</name>
<name sortKey="Boon, L" sort="Boon, L" uniqKey="Boon L" first="L" last="Boon">L. Boon</name>
<name sortKey="Boralevi, F" sort="Boralevi, F" uniqKey="Boralevi F" first="F" last="Boralevi">F. Boralevi</name>
<name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P" last="Brouillard">P. Brouillard</name>
<name sortKey="Cordisco, M" sort="Cordisco, M" uniqKey="Cordisco M" first="M" last="Cordisco">M. Cordisco</name>
<name sortKey="Danda, S" sort="Danda, S" uniqKey="Danda S" first="S" last="Danda">S. Danda</name>
<name sortKey="Dompmartin, A" sort="Dompmartin, A" uniqKey="Dompmartin A" first="A" last="Dompmartin">A. Dompmartin</name>
<name sortKey="Enjolras, O" sort="Enjolras, O" uniqKey="Enjolras O" first="O" last="Enjolras">O. Enjolras</name>
<name sortKey="Ghassibe, M" sort="Ghassibe, M" uniqKey="Ghassibe M" first="M" last="Ghassibe">M. Ghassibe</name>
<name sortKey="Harper, J" sort="Harper, J" uniqKey="Harper J" first="J" last="Harper">J. Harper</name>
<name sortKey="Mulliken, J" sort="Mulliken, J" uniqKey="Mulliken J" first="J" last="Mulliken">J. Mulliken</name>
<name sortKey="Penington, A" sort="Penington, A" uniqKey="Penington A" first="A" last="Penington">A. Penington</name>
<name sortKey="Piette, F" sort="Piette, F" uniqKey="Piette F" first="F" last="Piette">F. Piette</name>
<name sortKey="Syed, S" sort="Syed, S" uniqKey="Syed S" first="S" last="Syed">S. Syed</name>
<name sortKey="Taieb, A" sort="Taieb, A" uniqKey="Taieb A" first="A" last="Taieb">A. Taieb</name>
<name sortKey="Temple, I" sort="Temple, I" uniqKey="Temple I" first="I" last="Temple">I. Temple</name>
<name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name>
</noCountry>
</tree>
</affiliations>
</record>
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