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A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. (Articolo in rivista)

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A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. (Articolo in rivista) (literal)

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Signori E.1; Massi E.1*; Matera M.G.2*; Poscente M.3*; Gravina C.2; Falcone G.4; Rosa M.A.5; Rinaldi M.6; Wuyts W.7; Seripa D.2; Dallapiccola B.8; Fazio V.M.1,2 Clinical reference groups§ (2007)
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.
in Genes chromosomes & cancer (Print)
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Signori E.1; Massi E.1*; Matera M.G.2*; Poscente M.3*; Gravina C.2; Falcone G.4; Rosa M.A.5; Rinaldi M.6; Wuyts W.7; Seripa D.2; Dallapiccola B.8; Fazio V.M.1,2 Clinical reference groups§ (literal)

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§ The members of the Clinical reference groups include M.M. Rinaldi (Service of Medical Genetics, H. A. Cardarelli, Naples, Italy); B. Pasini (Department of Genetics, Biology and Biochemistry) G.B. Ferrero (Department of Pediatric and Adolescence Sciences, University of Turin, Turin, Italy); R. Tenconi (Clinical Genetics ed Epidemiology, Department of Pediatrics, University of Padua, Padua, Italy); M.C. Digilio, A. Giannotti, (Medical Genetics, IRCCS H. Bambino Gesù, Rome, Italy); G. Novelli, F. Sangiuolo (Human Genetics Section, Department of Biopathology, University of Tor Vergata, Rome, Italy); M. Genuardi (Department of Clinical Pathophysiology, Section of Medical Genetics, University of Florence, Florence, Italy); P. Strisciuglio (Department of Pediatrics, University Magna Graecia, Catanzaro, Italy); I. Mammi (Consultorio Genetica Medica, Azienda ULSS n.13, Mirano-Dolo (Ve), Italy); E. Tarantino (Institute of Pediatric Clinic, University of Pisa, Pisa, Italy); L. Zelante (Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy) (literal)

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* Emanuela Massi, Maria Giovanna Matera and Monica Poscente have contributed equally to the work. (literal)

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1 = Laboratory of Molecular Medicine and Biotechnology, University Campus Bio-Medico School of Medicine and Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy; 2 = Laboratory of Oncology, IRCCS H. Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy; 3 = Laboratory of Molecular Medicine and Biotechnology, University Campus Bio-Medico School of Medicine, Rome, Italy; 4 = Casa di Cura Villa Valeria, Rome, Italy; 5 = Department of Special Surgery, Division of Traumatology and Orthopedy, University of Messina, Messina, Italy; 6 = Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy; 7 = Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium; 8 = IRCCS H. Casa Sollievo della Sofferenza, Mendel Institute, Rome, Italy (literal)

Titolo

A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. (literal)

Abstract

Multiple osteochondromas (MO), also known as hereditary multiple exostoses (HME), is one of the most common hereditary musculoskeletal diseases in Caucasians (1/50,000) with wide clinical variability and genetic heterogeneity. Two genes have thus far been identified as causing the disease, namely EXT1 and EXT2. Various methods to detect mutations in the EXT genes have been used. Here a cohort of 100 MO patients belonging to unrelated Italian families have been analyzed by single-strand conformation polymorphism (SSCP) analysis or by denaturing high performance liquid chromatography (DHPLC). However, neither of these techniques can detect deletions or duplications of entire exons. Families that were negative at SSCP/DHPLC analysis underwent two-color multiple ligation-dependent probe amplification (MLPA) analysis. By these complementary techniques mutation detection was significantly improved and 26 novel mutations have been revealed as well as 18 previously described mutations to give a total of 44 different mutations. Thus we can conclude that combining MLPA with DHPLC in point-mutations negative MO families, the detection of mutations in EXT genes can significantly improve the identification of both point-mutations and mid-size rearrangements. More important, we were able to characterize all those patients who were negative at the first PCR-based method screening. (c) 2007 Wiley-Liss, Inc. (literal)

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