Abstract
Classical Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder (HCTD) characterized by skin hyperelasticity, joint hypermobility and general tissue fragility. Mutations in COL5A1 and COL5A2 genes, encoding the type V collagen proalpha-1 (pro-α1) and proalpha-2 (pro-α2) chains respectively, are responsible of approximately 90% cEDS patients. The molecular basis of cEDS was investigated in a 43-years-old Italian woman by Target Enrichment Approach and variants were confirmed with different method as Sanger Sequencing. The analysis revealed an already described stop-gain mutation c.3769C>T, p. (Arg1257*) (rs748870349) in exon 48 of COL5A1 gene and two additional variants located in exon 48 of COL5A2 gene, that are a novel missense mutation c.3466C>G, p. (Pro1156Ala) and a known variant c.3379C>T, p. (Arg1127Cys) (rs886055354). All mutations were in heterozygous state and located in the triple-helix domain of collagen type V. The combination/co-presence of these three different collagen mutations confirmed the phenotype of EDS patients.
| Original language | English |
|---|---|
| Pages (from-to) | 132-136 |
| Number of pages | 5 |
| Journal | Meta Gene |
| Volume | 18 |
| DOIs | |
| Publication status | Published - Dec 1 2018 |
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Keywords
- Biochemical Analysis
- Collagen type V protein
- Ehlers-Danlos Syndrome Classic type
- Next Generation Sequencing
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Ehlers-Danlos Syndrome classical type : A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype. / Cortini, Francesca; Villa, Chiara; Marinelli, Barbara; Franchetti, Sara; Seia, Manuela; Pesatori, Angela Cecilia; Montano, Nicola; Bassotti, Alessandra.
In: Meta Gene, Vol. 18, 01.12.2018, p. 132-136.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Ehlers-Danlos Syndrome classical type
T2 - A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype
AU - Cortini, Francesca
AU - Villa, Chiara
AU - Marinelli, Barbara
AU - Franchetti, Sara
AU - Seia, Manuela
AU - Pesatori, Angela Cecilia
AU - Montano, Nicola
AU - Bassotti, Alessandra
PY - 2018/12/1
Y1 - 2018/12/1
N2 - Classical Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder (HCTD) characterized by skin hyperelasticity, joint hypermobility and general tissue fragility. Mutations in COL5A1 and COL5A2 genes, encoding the type V collagen proalpha-1 (pro-α1) and proalpha-2 (pro-α2) chains respectively, are responsible of approximately 90% cEDS patients. The molecular basis of cEDS was investigated in a 43-years-old Italian woman by Target Enrichment Approach and variants were confirmed with different method as Sanger Sequencing. The analysis revealed an already described stop-gain mutation c.3769C>T, p. (Arg1257*) (rs748870349) in exon 48 of COL5A1 gene and two additional variants located in exon 48 of COL5A2 gene, that are a novel missense mutation c.3466C>G, p. (Pro1156Ala) and a known variant c.3379C>T, p. (Arg1127Cys) (rs886055354). All mutations were in heterozygous state and located in the triple-helix domain of collagen type V. The combination/co-presence of these three different collagen mutations confirmed the phenotype of EDS patients.
AB - Classical Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder (HCTD) characterized by skin hyperelasticity, joint hypermobility and general tissue fragility. Mutations in COL5A1 and COL5A2 genes, encoding the type V collagen proalpha-1 (pro-α1) and proalpha-2 (pro-α2) chains respectively, are responsible of approximately 90% cEDS patients. The molecular basis of cEDS was investigated in a 43-years-old Italian woman by Target Enrichment Approach and variants were confirmed with different method as Sanger Sequencing. The analysis revealed an already described stop-gain mutation c.3769C>T, p. (Arg1257*) (rs748870349) in exon 48 of COL5A1 gene and two additional variants located in exon 48 of COL5A2 gene, that are a novel missense mutation c.3466C>G, p. (Pro1156Ala) and a known variant c.3379C>T, p. (Arg1127Cys) (rs886055354). All mutations were in heterozygous state and located in the triple-helix domain of collagen type V. The combination/co-presence of these three different collagen mutations confirmed the phenotype of EDS patients.
KW - Biochemical Analysis
KW - Collagen type V protein
KW - Ehlers-Danlos Syndrome Classic type
KW - Next Generation Sequencing
UR - http://www.scopus.com/inward/record.url?scp=85052904889&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85052904889&partnerID=8YFLogxK
U2 - 10.1016/j.mgene.2018.08.012
DO - 10.1016/j.mgene.2018.08.012
M3 - Article
AN - SCOPUS:85052904889
VL - 18
SP - 132
EP - 136
JO - Meta Gene
JF - Meta Gene
SN - 2214-5400
ER -