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
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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 -