Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect
Identifieur interne : 000543 ( France/Analysis ); précédent : 000542; suivant : 000544Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect
Auteurs : P. Brouillard [Belgique] ; M. Ghassibé [Belgique] ; A. Penington [Australie] ; L M Boon [Belgique] ; A. Dompmartin [France] ; I K Temple [Royaume-Uni] ; M. Cordisco [Argentine] ; D. Adams [États-Unis] ; F. Piette [France] ; J I Harper [Royaume-Uni] ; S. Syed [Royaume-Uni] ; F. Boralevi [France] ; A. Taïeb [France] ; S. Danda [Australie] ; E. Baselga [Espagne] ; O. Enjolras [France] ; J B Mulliken [États-Unis] ; M. Vikkula [Belgique]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2005-02.
English descriptors
- KwdEn :
Abstract
Background: 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 1p21-22 and is caused by truncating mutations in glomulin. 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. Objective: To report on the identification of a mutation in glomulin in 23 additional families with GVM. Results: Three mutations are new; the others have been described previously. Among the 17 different inherited mutations in glomulin known up to now in 43 families, the 157delAAGAA mutation is the most common and was present in 21 families (48.8%). Mutation 108C→A was found in five families (11.8%), and the mutations 554delA+556delCCT and 1179delCAA were present together in two families (4.7% each). Polymorphic markers suggested a founder effect for all four mutations. Conclusions: Screening for these mutations should lead to a genetic diagnosis in about 70% of patients with inherited GVM. So far, a mutation in glomulin has been found in all GVM families tested, thus demonstrating locus homogeneity.
Url:
- https://api.istex.fr/document/9292F27733C34BC4D3987EC87E6DE853748F2B79/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735996
DOI: 10.1136/jmg.2004.024174
Affiliations:
- Argentine, Australie, Belgique, Espagne, France, Royaume-Uni, États-Unis
- Angleterre, Aquitaine, Australie-Méridionale, Basse-Normandie, Catalogne, Grand Londres, Hauts-de-France, Massachusetts, Nord-Pas-de-Calais, Nouvelle-Aquitaine, Ohio, Région Normandie, Région de Bruxelles-Capitale, Île-de-France
- Barcelone, Bordeaux, Bruxelles, Caen, Lille, Londres, Louvain-la-Neuve, Paris
- Université catholique de Louvain
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ISTEX:9292F27733C34BC4D3987EC87E6DE853748F2B79Le document en format XML
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Penington</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>University of Melbourne, Department of Surgery, St Vincent’s Hospital, Melbourne</wicri:regionArea><wicri:noRegion>Melbourne</wicri:noRegion></affiliation></author><author><name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L M" last="Boon">L M Boon</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre of Vascular Anomalies, Division of Plastic Surgery, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Dompmartin, A" sort="Dompmartin, A" uniqKey="Dompmartin A" first="A" last="Dompmartin">A. 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Syed</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Boralevi, F" sort="Boralevi, F" uniqKey="Boralevi F" first="F" last="Boralevi">F. Boralevi</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU, Bordeaux</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Taieb, A" sort="Taieb, A" uniqKey="Taieb A" first="A" last="Taïeb">A. Taïeb</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU, Bordeaux</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Danda, S" sort="Danda, S" uniqKey="Danda S" first="S" last="Danda">S. Danda</name><affiliation wicri:level="2"><country>Australie</country><placeName><region type="state">Australie-Méridionale</region></placeName><wicri:cityArea>South Australian Clinical Genetics Service, Women’s & Children’s Hospital, North Adelaide</wicri:cityArea></affiliation></author><author><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E" last="Baselga">E. Baselga</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Enjolras, O" sort="Enjolras, O" uniqKey="Enjolras O" first="O" last="Enjolras">O. Enjolras</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Consultations des Angiomes, Hôpital Lariboisière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J B" last="Mulliken">J B Mulliken</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Plastic Surgery, Vascular Anomalies Center, Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2005-02">2005-02</date><biblScope unit="volume">42</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="13">e13</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">9292F27733C34BC4D3987EC87E6DE853748F2B79</idno><idno type="DOI">10.1136/jmg.2004.024174</idno><idno type="href">jmedgenet-42-e13.pdf</idno><idno type="PMID">15689436</idno><idno type="local">042e013</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>GVM, glomuvenous malformation</term><term>founder effect</term><term>glomuvenous malformation</term><term>paradominant inheritance</term><term>vascular anomaly</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: 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 1p21-22 and is caused by truncating mutations in glomulin. 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. Objective: To report on the identification of a mutation in glomulin in 23 additional families with GVM. Results: Three mutations are new; the others have been described previously. Among the 17 different inherited mutations in glomulin known up to now in 43 families, the 157delAAGAA mutation is the most common and was present in 21 families (48.8%). Mutation 108C→A was found in five families (11.8%), and the mutations 554delA+556delCCT and 1179delCAA were present together in two families (4.7% each). Polymorphic markers suggested a founder effect for all four mutations. Conclusions: Screening for these mutations should lead to a genetic diagnosis in about 70% of patients with inherited GVM. So far, a mutation in glomulin has been found in all GVM families tested, thus demonstrating locus homogeneity.</div></front></TEI><affiliations><list><country><li>Argentine</li><li>Australie</li><li>Belgique</li><li>Espagne</li><li>France</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Aquitaine</li><li>Australie-Méridionale</li><li>Basse-Normandie</li><li>Catalogne</li><li>Grand Londres</li><li>Hauts-de-France</li><li>Massachusetts</li><li>Nord-Pas-de-Calais</li><li>Nouvelle-Aquitaine</li><li>Ohio</li><li>Région Normandie</li><li>Région de Bruxelles-Capitale</li><li>Île-de-France</li></region><settlement><li>Barcelone</li><li>Bordeaux</li><li>Bruxelles</li><li>Caen</li><li>Lille</li><li>Londres</li><li>Louvain-la-Neuve</li><li>Paris</li></settlement><orgName><li>Université catholique de Louvain</li></orgName></list><tree><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P" last="Brouillard">P. Brouillard</name></region><name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L M" last="Boon">L M Boon</name><name sortKey="Ghassibe, M" sort="Ghassibe, M" uniqKey="Ghassibe M" first="M" last="Ghassibé">M. Ghassibé</name><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name></country><country name="Australie"><noRegion><name sortKey="Penington, A" sort="Penington, A" uniqKey="Penington A" first="A" last="Penington">A. Penington</name></noRegion><name sortKey="Danda, S" sort="Danda, S" uniqKey="Danda S" first="S" last="Danda">S. Danda</name></country><country name="France"><region name="Région Normandie"><name sortKey="Dompmartin, A" sort="Dompmartin, A" uniqKey="Dompmartin A" first="A" last="Dompmartin">A. Dompmartin</name></region><name sortKey="Boralevi, F" sort="Boralevi, F" uniqKey="Boralevi F" first="F" last="Boralevi">F. Boralevi</name><name sortKey="Enjolras, O" sort="Enjolras, O" uniqKey="Enjolras O" first="O" last="Enjolras">O. Enjolras</name><name sortKey="Piette, F" sort="Piette, F" uniqKey="Piette F" first="F" last="Piette">F. Piette</name><name sortKey="Taieb, A" sort="Taieb, A" uniqKey="Taieb A" first="A" last="Taïeb">A. Taïeb</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Temple, I K" sort="Temple, I K" uniqKey="Temple I" first="I K" last="Temple">I K Temple</name></noRegion><name sortKey="Harper, J I" sort="Harper, J I" uniqKey="Harper J" first="J I" last="Harper">J I Harper</name><name sortKey="Syed, S" sort="Syed, S" uniqKey="Syed S" first="S" last="Syed">S. Syed</name></country><country name="Argentine"><noRegion><name sortKey="Cordisco, M" sort="Cordisco, M" uniqKey="Cordisco M" first="M" last="Cordisco">M. 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