LymphedemaV1, Ncbi, Checkpoint, bibRecord, 001C96

Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect

Identifieur interne : 001C96 ( Ncbi/Checkpoint ); précédent : 001C95; suivant : 001C97

Four 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. Vikkula

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 2005.

RBID : PMC:1735996

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:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735996

DOI: 10.1136/jmg.2004.024174
PubMed: 15689436
PubMed Central: 1735996

Affiliations:

Links toward previous steps (curation, corpus...)

to stream Pmc, to step Corpus: 004C02
to stream Pmc, to step Curation: 004C01
to stream Pmc, to step Checkpoint: 003D67
to stream Ncbi, to step Merge: 001C96
to stream Ncbi, to step Curation: 001C96

Links to Exploration step

PMC:1735996

Le document en format XML

<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>
</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>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">15689436</idno>
<idno type="pmc">1735996</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735996</idno>
<idno type="RBID">PMC:1735996</idno>
<idno type="doi">10.1136/jmg.2004.024174</idno>
<date when="2005">2005</date>
<idno type="wicri:Area/Pmc/Corpus">004C02</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">004C02</idno>
<idno type="wicri:Area/Pmc/Curation">004C01</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">004C01</idno>
<idno type="wicri:Area/Pmc/Checkpoint">003D67</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">003D67</idno>
<idno type="wicri:Area/Ncbi/Merge">001C96</idno>
<idno type="wicri:Area/Ncbi/Curation">001C96</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001C96</idno>
</publicationStmt>
<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>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<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>
<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>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Checkpoint

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001C96 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 001C96 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Ncbi
   |étape=   Checkpoint
   |type=    RBID
   |clé=     PMC:1735996
   |texte=   Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i   -Sk "pubmed:15689436" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur le lymphœdème

Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect

Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect

Source :

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki