1. 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
- Author
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Sara Franchetti, Angela Cecilia Pesatori, Alessandra Bassotti, Barbara Marinelli, Manuela Seia, Nicola Montano, Francesca Cortini, Chiara Villa, Cortini, F, Villa, C, Marinelli, B, Franchetti, S, Seia, M, Pesatori, A, Montano, N, and Bassotti, A
- Subjects
0301 basic medicine ,Genetics ,Joint hypermobility ,Sanger sequencing ,Mutation ,Next Generation Sequencing ,030105 genetics & heredity ,Biology ,medicine.disease_cause ,medicine.disease ,Phenotype ,Ehlers-Danlos Syndrome Classic type ,03 medical and health sciences ,Exon ,symbols.namesake ,030104 developmental biology ,Biochemical Analysi ,Ehlers-Danlos syndrome classic type ,medicine ,symbols ,Missense mutation ,Gene ,Genetics (clinical) ,Collagen type V protein - 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.
- Published
- 2018