| The MHE Research Foundation would like to thank Transgenomic, Inc. for the description of this testing. |
Please note that DHPLC for clinical genetic testing MHE / MO / HME is offered at : Department of
Medical Genetics, University of Antwerp (Belgium) & The Genetic Unit ,The Rizzoli Orthopaedic
Institute, Bologna, Italy and GENDIA
Medical Genetics, University of Antwerp (Belgium) & The Genetic Unit ,The Rizzoli Orthopaedic
Institute, Bologna, Italy and GENDIA
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. Full Text PDF Link
Pedrini E, De Luca A, Valente EM, Maini V, Capponcelli S, Mordenti M, Mingarelli R, Sangiorgi L, Dallapiccola B. Modulo di Familiarita
e Genetica, Lab. Ricerca Oncologica, Istituti Ortopedici Rizzoli, Bologna, Italy.
We describe the results of an optimised DHPLC-based mutation screening of the EXT1 and EXT2 genes in Italian patients
affected by multiple osteochondromas [MO; also referred to as hereditary multiple exostoses (HME) in the literature], using a
multistep approach. We first analysed 36 unrelated probands for EXT1 mutations by DHPLC analysis and subsequent direct
sequencing of all samples with abnormal elution profile. Negative cases were then screened for EXT2 mutations using the same
approach. In patients who tested normal at DHPLC screening, all EXT1 and EXT2 exons and splice-site junctions were directly
sequenced. In 7 informative families, we also performed a pre-screening linkage analysis to selectively focus the DHPLC testing
on the EXT1 or EXT2 gene. We detected 31 MO-related mutations, of which 23 (74%) were novel. Seven polymorphisms were
also found. Twenty-four mutations (77%) were found in EXT1 and 7 (23%) in EXT2. No disease-causing mutations were
detected in five of 36 patients, with a mutation frequency of 86%. According with previous studies, most mutations (90%) are
loss of function. Neither false positive nor false negative results were obtained. This multistep method can be considered a fast
and reliable diagnostic strategy for the detection of EXT1/2 mutations, with excellent sensitivity and specificity.
Pedrini E, De Luca A, Valente EM, Maini V, Capponcelli S, Mordenti M, Mingarelli R, Sangiorgi L, Dallapiccola B. Modulo di Familiarita
e Genetica, Lab. Ricerca Oncologica, Istituti Ortopedici Rizzoli, Bologna, Italy.
We describe the results of an optimised DHPLC-based mutation screening of the EXT1 and EXT2 genes in Italian patients
affected by multiple osteochondromas [MO; also referred to as hereditary multiple exostoses (HME) in the literature], using a
multistep approach. We first analysed 36 unrelated probands for EXT1 mutations by DHPLC analysis and subsequent direct
sequencing of all samples with abnormal elution profile. Negative cases were then screened for EXT2 mutations using the same
approach. In patients who tested normal at DHPLC screening, all EXT1 and EXT2 exons and splice-site junctions were directly
sequenced. In 7 informative families, we also performed a pre-screening linkage analysis to selectively focus the DHPLC testing
on the EXT1 or EXT2 gene. We detected 31 MO-related mutations, of which 23 (74%) were novel. Seven polymorphisms were
also found. Twenty-four mutations (77%) were found in EXT1 and 7 (23%) in EXT2. No disease-causing mutations were
detected in five of 36 patients, with a mutation frequency of 86%. According with previous studies, most mutations (90%) are
loss of function. Neither false positive nor false negative results were obtained. This multistep method can be considered a fast
and reliable diagnostic strategy for the detection of EXT1/2 mutations, with excellent sensitivity and specificity.
| DHPLC Genetic Testing |
(DHPLC) denaturing high performance liquid chromatography: DHPLC is a more recent and a more accurate and sensitive form of
testing than other methods for mutation detection.
Click the link DHPLC below to view an animation of this testing
Press Release 1 / 19 / 08
Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis,
Fluorescence in Situ Hybridization, and a New Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with
Multiple Osteochondromas
Ivy Jennes*, Mark M. Entius{dagger}, Els Van Hul*, Alessandro Parra{ddagger}, Luca Sangiorgi{ddagger} and Wim Wuyts*
To Read this publication Click Here
Both Luca Sangiorgi, M.D., Ph.D. and Wim Wuyts, Ph.D. are members of our Scientific & Medical Advisory Board and our
foundation helped support this research
Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis,
Fluorescence in Situ Hybridization, and a New Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with
Multiple Osteochondromas
Ivy Jennes*, Mark M. Entius{dagger}, Els Van Hul*, Alessandro Parra{ddagger}, Luca Sangiorgi{ddagger} and Wim Wuyts*
To Read this publication Click Here
Both Luca Sangiorgi, M.D., Ph.D. and Wim Wuyts, Ph.D. are members of our Scientific & Medical Advisory Board and our
foundation helped support this research
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The MHE Research Foundation, we comply with the HONcode standard for health trust worthy information: By the Health On the Net Foundation.
Click here to verify.# HON Conduct 282463 and is the patient support link on the US Government Genetics Home Reference (http://ghr.nlm.nih.gov)
website, also linked for Patient Information on The Diseases Database a cross-referenced index of human disease, as well as 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
Click here to verify.# HON Conduct 282463 and is the patient support link on the US Government Genetics Home Reference (http://ghr.nlm.nih.gov)
website, also linked for Patient Information on The Diseases Database a cross-referenced index of human disease, as well as 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
The MHE Research Foundation is proud to be working with the EuroBoNeT consortium, a European Commission granted Network of Excellence for
studying the pathology and genetics of bone tumors.
studying the pathology and genetics of bone tumors.
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