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A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
Ruscitti, Federica; Trevisan, Lucia; Rosti, Giulia; Gotta, Fabio; Cianflone, Annalia; Geroldi, Alessandro; Origone, Paola; Pichiecchio, Anna; Viglio, Simona; Iascone, Maria; Mandich, Paola.
Afiliación
  • Ruscitti F; DINOGMI Department, University of Genoa, Genoa, Italy.
  • Trevisan L; Medical Genetics Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Rosti G; DINOGMI Department, University of Genoa, Genoa, Italy.
  • Gotta F; Medical Genetics Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Cianflone A; DINOGMI Department, University of Genoa, Genoa, Italy.
  • Geroldi A; Medical Genetics Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Origone P; Medical Genetics Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Pichiecchio A; DINOGMI Department, University of Genoa, Genoa, Italy.
  • Viglio S; Medical Genetics Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
  • Iascone M; DINOGMI Department, University of Genoa, Genoa, Italy.
  • Mandich P; DINOGMI Department, University of Genoa, Genoa, Italy.
Mol Genet Genomic Med ; 9(9): e1753, 2021 09.
Article en En | MEDLINE | ID: mdl-34318601
BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a heritable connective tissue disorder caused by defects in the type III collagen protein. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS) due to an increased risk of spontaneous artery or organ rupture. vEDS has an extremely heterogeneous presentation and muscle rupture is considered a minor diagnostic criterium. METHODS: A patient with a long history of inconclusive examinations and investigations was referred to our unit. The clinical picture was mainly characterized by muscle ruptures, whereas the cardiovascular involvement was limited to mitral regurgitation. We performed a panel analysis of genes associated with inheritable heart diseases using the TruSight Cardio kit (Illumina). A skin biopsy was then performed for functional studies to analyze the different forms of collagen molecules produced in vitro by cutaneous fibroblasts. RESULTS: The patient presented the novel variant c.3478A>G (p.Ile1160Val) in COL3A1 (NM_000090.3), whose pathogenicity was supported by biochemical analysis of type III collagen. CONCLUSION: In this report, we describe a case of vEDS with predominant and severe musculoskeletal involvement. Our findings provide insight into genetic variants and clinical expression of vEDS, broadening the clinical scenario of the syndrome.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Colágeno Tipo III / Síndrome de Ehlers-Danlos Tipo de estudio: Risk_factors_studies Límite: Adult / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Colágeno Tipo III / Síndrome de Ehlers-Danlos Tipo de estudio: Risk_factors_studies Límite: Adult / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos