A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
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.
1 Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca' Granda Foundation, Milano, Italy.|2 Genetics Laboratory, IRCCS Ca' Granda Foundation, Milan, Italy.
Francesca
F
Cortini
1 Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca' Granda Foundation, Milano, Italy.
Barbara
B
Marinelli
1 Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca' Granda Foundation, Milano, Italy.|2 Genetics Laboratory, IRCCS Ca' Granda Foundation, Milan, Italy.
Silvia
S
Romi
2 Genetics Laboratory, IRCCS Ca' Granda Foundation, Milan, Italy.|3 Fondazione Grigioni per il Morbo di Parkinson, Milano, Italy.
Agostino
A
Seresini
1 Department of Clinical Sciences and Community Health, University of Milan IRCCS Ca' Granda Foundation, Milano, Italy.
Angela Cecilia
AC
Pesatori
2 Genetics Laboratory, IRCCS Ca' Granda Foundation, Milan, Italy.
Manuela
M
Seia
4 Department of Internal Medicine, Fondazione IRCCS Ca' Granda-Ospedale Maggiore & Department of Clinical Sciences and Health Community, University of Milan, Italy.
Nicola
N
Montano
5 Regional Center of Ehlers-Danlos Syndrome, IRCCS Ca' Granda Foundation, Milan, Italy.
Alessandra
A
Bassotti
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D024061:Collagen Type III / Q000235:genetics*; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype
C439971:COL3A1 protein, human; D024061:Collagen Type III
COL3A1 gene; Ehlers-Danlos syndrome vascular type; Haloplex target enrichment; bioinformatics analysis; next-generation sequencing; penetrance