Abstract
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.
| Original language | English |
|---|---|
| Pages (from-to) | 141-145 |
| Number of pages | 5 |
| Journal | Vascular and Endovascular Surgery |
| Volume | 51 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Apr 1 2017 |
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Keywords
- bioinformatics analysis
- COL3A1 gene
- Ehlers-Danlos syndrome vascular type
- Haloplex target enrichment
- next-generation sequencing
- penetrance
ASJC Scopus subject areas
- Surgery
- Cardiology and Cardiovascular Medicine
Cite this
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type with Different Phenotypes in the Same Family. / Cortini, Francesca; Marinelli, Barbara; Romi, Silvia; Seresini, Agostino; Pesatori, Angela Cecilia; Seia, Manuela; Montano, Nicola; Bassotti, Alessandra.
In: Vascular and Endovascular Surgery, Vol. 51, No. 3, 01.04.2017, p. 141-145.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type with Different Phenotypes in the Same Family
AU - Cortini, Francesca
AU - Marinelli, Barbara
AU - Romi, Silvia
AU - Seresini, Agostino
AU - Pesatori, Angela Cecilia
AU - Seia, Manuela
AU - Montano, Nicola
AU - Bassotti, Alessandra
PY - 2017/4/1
Y1 - 2017/4/1
N2 - Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.
AB - Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.
KW - bioinformatics analysis
KW - COL3A1 gene
KW - Ehlers-Danlos syndrome vascular type
KW - Haloplex target enrichment
KW - next-generation sequencing
KW - penetrance
UR - http://www.scopus.com/inward/record.url?scp=85018768202&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85018768202&partnerID=8YFLogxK
U2 - 10.1177/1538574417692114
DO - 10.1177/1538574417692114
M3 - Article
C2 - 28183226
AN - SCOPUS:85018768202
VL - 51
SP - 141
EP - 145
JO - Vascular and Endovascular Surgery
JF - Vascular and Endovascular Surgery
SN - 1538-5744
IS - 3
ER -