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Observatory on Hereditary Connective Tissues Diseases (OCE)

Prof. Colombi Marina
Prof. Calzavara Pinton Piergiacomo (DSCS)
Prof. Zoppi Nicoletta
Dr. Venturini Marina (DSCS)
Dott. Ritelli Marco Contrattista, Sezione di Biologia e Genetica - DMMT
Dott. Chiarelli Nicola Assegnista di ricerca, Sezione di Biologia e Genetica - DMMT.

Hereditary connective tissue diseases are a large group of genetic diseases which clinically involve a number of organs and systems made up mainly of connective tissue, especially the skin, the cardiovascular, the articular, the ocular and the skeletal systems. Mutations in genes coding for structural proteins, proteoglycans and for enzymes and growth factors that regulate their maturation and synthesis, are responsible for several hundred specific disorders.
Most of these diseases is transmitted by the autosomal dominant mode, but recessive autosomal transmission is also present in cases affecting genes coding for enzymes and/or transcription/growth factors or for proteins for regulation (not structural proteins).
Given how rare these genetic diseases are, few specialists currently deal with their clinical and molecular definition in Italy and abroad.
The aims of the OCE are as follows:
-  To further knowledge on hereditary connective tissue diseases involving mainly the skin and the musculoskeletal and vascular systems, from both a clinical and molecular point of view. Specifically, the OCE undertakes to define more specific clinical and molecular approaches for patient diagnosis.
-  To promote the spreading of knowledge on hereditary connective tissue diseases among specialists, patient associations and patients, locally, nationally and internationally, in order to implement up-to-date and effective guidelines for ever earlier diagnosis and adequate multidisciplinary support.

Recent Bibliography

Ritelli M, Venturini M, Dordoni C, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 2013, Orphanet J Rare Dis, Apr 12;8:58, 13 pp

Dordoni C, Ritelli M, Venturini M, Chiarelli N, Pezzani L, Vascellaro A, Calzavara-Pinton P, Colombi M. Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type. 2013, Am J Med Genet, 161:1143-7

Wischmeijer A, Van Laer L, Tortora G, Bolar NA, Van Camp G, Fransen E, di Bartolomeo R, Pacini D, Gargiulo G, Turci S, Bonvicini M, Mariucci E, Lovato L, Brusori S, Ritelli M, Colombi M, Garavelli L, Seri M, Loeys BL. First report of thoracic aortic aneurysm in infancy in a family with aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the clinical phenotype. 2013, Am J Med Genet, 161:1028-35

Zoppi N, Ritelli M, Colombi M. Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix detective Ehlers-Danlos syndrome skin fibroblasts. 2012, Biochim Biophys Acta, 1820:1576-87

Ritelli M, Chiarelli N, Quinzani S, Dordoni C, Venturini M, Calzavara-Pinton P, Colombi M. Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa. 2013, Br J Dermatol, 168:904-6

Castori M, Morlino S, Dordoni C, Celletti C, Camerota F, Ritelli M, Venturini M, Grammatico P, Colombi M. Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian women. 2012, Am J Med Genet 158A:2176-82

Castori M, Morlino S., Celletti C, Celli M, Morrone A, Colombi M, Camerota F, Grammatico P. Management of pain and fatigue in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach. 2012, Am J Med Genet 158A:2055-70

Castori M, Ritelli M, Zoppi N, Chiarelli N, Molisso L, Zaccagna F, Grammatico P, Colombi M. Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with the novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. 2012, Am J Med Genet 158A:1164-9.

Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Hu YZY, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C. Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. 2012, Am J Hum Genet 90:201-16.

Fattori R, Sangiorgio P, Mariucci E, Ritelli M, Wischmeijer A, Greco C, Colombi M. Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome. 2012, Am J Med Genet, 158A:1216-8

Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, Nicolazzi MA, Musumeci A, Penco S, Buscemi L, Crivelli S, Danesino C, Clementi M, Calzavara-Pinton PG, Viglio S, Valli M, Barlati S, Colombi M. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 2011, J Dermatol Sci, 64:237-240

Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM. Mutations in PRDM5 in brittle cornea syndrome identify a novel pathway regulating extracellular matrix development and maintenance. 2011, Am J Hum Genet. 88:767-77

Pezzini A, Drera B, Del Zotto E, Ritelli M, Carletti M, Tomelleri G, Bovi P, Giossi A, Volonghi I, Costa P, Magoni M, Padovani A, Barlati S, Colombi M. Mutations in TGFBR2 gene cause spontaneous cervical artery dissection. 2011, J Neurol Neurosurg Psychiatry 82:1372-74

Chiarelli N, Ritelli M, Zoppi N, Benini A, Borsani B, Barlati S, Colombi M. Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio. 2011, Int J Dev Biol 55:229-36