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List of Publications via PubMed
(NIH National Library of Medicine)
List of Publications via PubMed
(NIH National Library of Medicine)
Research authored by Dr. Fazio
| Dr. Fazio's research |
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of
Italian multiple osteochondromas patients.
To read the abstract and full text link from this research paper
Signori E, Massi E, Matera MG, Poscente M, Gravina C, Falcone G, Rosa MA, Rinaldi M, Wuyts W,
Seripa D, Dallapiccola B, Fazio VM.
Laboratory of Molecular Medicine and Biotechnology, University Campus Bio-Medico School of
Medicine and Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy.
e.signori@unicampus.it
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.
Italian multiple osteochondromas patients.
To read the abstract and full text link from this research paper
Signori E, Massi E, Matera MG, Poscente M, Gravina C, Falcone G, Rosa MA, Rinaldi M, Wuyts W,
Seripa D, Dallapiccola B, Fazio VM.
Laboratory of Molecular Medicine and Biotechnology, University Campus Bio-Medico School of
Medicine and Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy.
e.signori@unicampus.it
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.
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By the Health On the Net Foundation. Click here to verify.# HON Conduct 282463 and is linked on the NIH
National Library of Medicine, Directory of Health Organizations (SIS) website, as well as the link for Patient
Information on The Diseases Database a cross-referenced index of human disease, and the Intute: health & life
sciences a free online service providing access to the very best Web resources for education and research
located in the UK
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