| Genetics Section |
Hereditary multiple exostoses is inherited in an autosomal dominant disease.
Most individuals with MHE / MO / HME have a parent who also has this condition, however, approximately 10% of individuals with
MHE / MO / HME have this condition as a result of a spontaneous mutation are thus the first person in their family to be
affected.
Genetic Testing of the EXT1 and EXT2 genes is available on a clinical basis. Please read Genetic Guides and
laboratories information located near the bottom of this website page.
There are two known genes that cause this disease EXT1 located on chromosome 8q23-q24 and EXT2 located on chromosome
11p11-p12. Approximately 60 to 70 %are located EXT1 gene and 20 to 30% are located EXT2 mutation. In 10 to 20% of the
patients, no mutation is found.
Offspring of an affected individual have a 50% risk of inheriting the altered gene for hereditary multiple exostoses.
Prenatal diagnosis:
You must have genetic testing preformed and your MHE / MO / HME mutation (disease-causing allele)must be found before
prenatal diagnosis can be preformed. Analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed
at about 15-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation.
Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period
or by ultrasound measurements.
Requests for prenatal testing for a condition such as MHE / MO / HME that does not affect intellect or life span, careful
discussion of these issues is appropriate. Differences in perspective may exist among medical professionals and families
regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination
rather than early diagnosis. Although most centers would consider decisions about prenatal testing to be the choice of the
parents.
Preimplantation genetic diagnosis link to help you find fertility centers offering (PGD)
Screening Embryos for Disease:
You must have genetic testing preformed and your MHE / MO / HME mutation (disease-causing allele must be found before PGD
can be preformed.
Preimplantation genetic diagnosis (PGD) is a test that screens for genetic mutations among embryos created during invitro
fertilization.
Developed in the early 1990's, preimplantation genetic diagnosis (PGD) is a way for couples to prevent a pregnancy affected by
a genetic condition disorder. This form of genetic testing is performed on embryos during an in vitro fertilization (IVF) cycle. The
embryos that have been analyzed and are found to be normal are transferred into the woman's uterus, where, hopefully, they
will implant and result in the birth of a healthy child.
With PGD, DNA samples from embryos created in-vitro by the combination of a mother's egg and a father's sperm are analyzed
for gene abnormalities that can cause disorders. Fertility specialists can use the results of this analysis to select only
mutation-free embryos for implantation into the mother's uterus.
Before PGD, couples at higher risks for conceiving a child with a particular disorder would have to initiate the pregnancy and
then undergo chorionic villus sampling in the first trimester or amniocentesis in the second trimester to test the fetus for the
presence of disease. If the fetus tested positive for the disorder, the couple would be faced with the dilemma of whether or not
to terminate the pregnancy.
If you are considering PGD, you should research the as many fertility centers as possible and ask for there success rates.
Success rate can vary, consider asking the success rate using PGD for single gene disorders and ages of theses woman. You
may also want to inquire how long the fertility center has been preforming PGD.
Most individuals with MHE / MO / HME have a parent who also has this condition, however, approximately 10% of individuals with
MHE / MO / HME have this condition as a result of a spontaneous mutation are thus the first person in their family to be
affected.
Genetic Testing of the EXT1 and EXT2 genes is available on a clinical basis. Please read Genetic Guides and
laboratories information located near the bottom of this website page.
There are two known genes that cause this disease EXT1 located on chromosome 8q23-q24 and EXT2 located on chromosome
11p11-p12. Approximately 60 to 70 %are located EXT1 gene and 20 to 30% are located EXT2 mutation. In 10 to 20% of the
patients, no mutation is found.
Offspring of an affected individual have a 50% risk of inheriting the altered gene for hereditary multiple exostoses.
Prenatal diagnosis:
You must have genetic testing preformed and your MHE / MO / HME mutation (disease-causing allele)must be found before
prenatal diagnosis can be preformed. Analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed
at about 15-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation.
Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period
or by ultrasound measurements.
Requests for prenatal testing for a condition such as MHE / MO / HME that does not affect intellect or life span, careful
discussion of these issues is appropriate. Differences in perspective may exist among medical professionals and families
regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination
rather than early diagnosis. Although most centers would consider decisions about prenatal testing to be the choice of the
parents.
Preimplantation genetic diagnosis link to help you find fertility centers offering (PGD)
Screening Embryos for Disease:
You must have genetic testing preformed and your MHE / MO / HME mutation (disease-causing allele must be found before PGD
can be preformed.
Preimplantation genetic diagnosis (PGD) is a test that screens for genetic mutations among embryos created during invitro
fertilization.
Developed in the early 1990's, preimplantation genetic diagnosis (PGD) is a way for couples to prevent a pregnancy affected by
a genetic condition disorder. This form of genetic testing is performed on embryos during an in vitro fertilization (IVF) cycle. The
embryos that have been analyzed and are found to be normal are transferred into the woman's uterus, where, hopefully, they
will implant and result in the birth of a healthy child.
With PGD, DNA samples from embryos created in-vitro by the combination of a mother's egg and a father's sperm are analyzed
for gene abnormalities that can cause disorders. Fertility specialists can use the results of this analysis to select only
mutation-free embryos for implantation into the mother's uterus.
Before PGD, couples at higher risks for conceiving a child with a particular disorder would have to initiate the pregnancy and
then undergo chorionic villus sampling in the first trimester or amniocentesis in the second trimester to test the fetus for the
presence of disease. If the fetus tested positive for the disorder, the couple would be faced with the dilemma of whether or not
to terminate the pregnancy.
If you are considering PGD, you should research the as many fertility centers as possible and ask for there success rates.
Success rate can vary, consider asking the success rate using PGD for single gene disorders and ages of theses woman. You
may also want to inquire how long the fertility center has been preforming PGD.
Genetic Testing of Embryos Practices and Perspectives of U.S. IVF Clinics (link to published study)
Image of Embryo Biopsy for Preimplantation Genetic Diagnosis (PGD)
You will need to clink the left hand corner to start this 28 second movie once you have clicked this tab
Image of Embryo Biopsy for Preimplantation Genetic Diagnosis (PGD)
You will need to clink the left hand corner to start this 28 second movie once you have clicked this tab
|
Please note that you have the right to ask your Genetic Counselor what laboratory your blood samples are being sent to for
your genetic testing.
Please note that insurance coverage in the USA is different for everyone, some health insurance will cover the costs of genetic
testing and others will not. If your health insurance does cover genetic testing the blood samples will most likely be sent to
GeneDx.
If your insurance does not cover genetic testing and you will be paying out of pocket for genetic testing there is a price
difference and having genetic testing done in Belgium or Italy will cost less and offer a wider range of genetic testing for the EXT
1 & EXT2 genes. MHERF is only pointing this out as the consumer, you have the right to know the differences in genetic testing
that can be preformed and costs as well.
All labs located on the web-page are certified in the USA or Europe and have world wide reputations.
The Genetic counselor can make the arrangements to over night a blood sample to Belgium or Italy, if this is the laboratory that
you have chosen for your genetic testing of the EXT1 and EXT2 genes .
If have been diagnosed with MHE / MO / HME and have received a negative result, (meaning a mutation or deletion was not
found during clinical testing from other laboratories, there maybe more clinical genetic testing that can be preformed by
Department of Medical Genetics, University of Antwerp Belgium or The Genetic Unit,The Rizzoli Orthopaedic
Institute, Bologna, Italy. Your genetic counselor should contact Wim Wutys, Ph.D, Department of Medical Genetics,
University of Antwerp Belgium or Luca Sangiorgi, M.D.,Ph.D.,The Rizzoli Orthopaedic Institute, Bologna, Italy directly,
so they may review all genetic testing that has been preformed thus far and advise what additional clinical genetic testing that
could be offered.
Laboratories offer more then one clinical genetic test that can be preformed. (see chart below)
If after all clinical genetic testing has been completed by Belgium or Italy, and if there no mutation /deletion is found, you will be
offered to have your sample put into there research laboratories. If found a mutation /deletion is found research lab, it will be
confirmed in the Clinical lab and the results will then be sent to your genetic counselor. There is no time frame connected with
research genetic testing (could be a few months / a year or years in the future, there is just no way to tell) this additional
research genetic testing will cost you nothing. A clinical conformation fee of $350.00 US dollars would be required for clinical
conformation of any research genetic testing preformed in this manner.
There have been cases of people being misdiagnosed with MHE / MO / HME, your genetic counselor should review your medical
records to check to make sure misdiagnoses was not given, if there is any question your genetic counselor may contact this
foundation for a help in obtaining a second opinion.
Genetic testing is different then having "quote" normal blood work testing preformed, what ever laboratory preforms this
genetic testing, in general 2-3 months and depending on the number of tests that need to be preformed could be longer. Once
the mutation or deletion is found and if the person is going to use PGD (please read above concerning this) genetic testing of
the embryos takes only a matter of a few hours. This will be explained to you in detail by the fertility centers genetic counselor.
If you have questions feel free to contact Sarah Ziegler and she will be happy to assist you.
your genetic testing.
Please note that insurance coverage in the USA is different for everyone, some health insurance will cover the costs of genetic
testing and others will not. If your health insurance does cover genetic testing the blood samples will most likely be sent to
GeneDx.
If your insurance does not cover genetic testing and you will be paying out of pocket for genetic testing there is a price
difference and having genetic testing done in Belgium or Italy will cost less and offer a wider range of genetic testing for the EXT
1 & EXT2 genes. MHERF is only pointing this out as the consumer, you have the right to know the differences in genetic testing
that can be preformed and costs as well.
All labs located on the web-page are certified in the USA or Europe and have world wide reputations.
The Genetic counselor can make the arrangements to over night a blood sample to Belgium or Italy, if this is the laboratory that
you have chosen for your genetic testing of the EXT1 and EXT2 genes .
If have been diagnosed with MHE / MO / HME and have received a negative result, (meaning a mutation or deletion was not
found during clinical testing from other laboratories, there maybe more clinical genetic testing that can be preformed by
Department of Medical Genetics, University of Antwerp Belgium or The Genetic Unit,The Rizzoli Orthopaedic
Institute, Bologna, Italy. Your genetic counselor should contact Wim Wutys, Ph.D, Department of Medical Genetics,
University of Antwerp Belgium or Luca Sangiorgi, M.D.,Ph.D.,The Rizzoli Orthopaedic Institute, Bologna, Italy directly,
so they may review all genetic testing that has been preformed thus far and advise what additional clinical genetic testing that
could be offered.
Laboratories offer more then one clinical genetic test that can be preformed. (see chart below)
If after all clinical genetic testing has been completed by Belgium or Italy, and if there no mutation /deletion is found, you will be
offered to have your sample put into there research laboratories. If found a mutation /deletion is found research lab, it will be
confirmed in the Clinical lab and the results will then be sent to your genetic counselor. There is no time frame connected with
research genetic testing (could be a few months / a year or years in the future, there is just no way to tell) this additional
research genetic testing will cost you nothing. A clinical conformation fee of $350.00 US dollars would be required for clinical
conformation of any research genetic testing preformed in this manner.
There have been cases of people being misdiagnosed with MHE / MO / HME, your genetic counselor should review your medical
records to check to make sure misdiagnoses was not given, if there is any question your genetic counselor may contact this
foundation for a help in obtaining a second opinion.
Genetic testing is different then having "quote" normal blood work testing preformed, what ever laboratory preforms this
genetic testing, in general 2-3 months and depending on the number of tests that need to be preformed could be longer. Once
the mutation or deletion is found and if the person is going to use PGD (please read above concerning this) genetic testing of
the embryos takes only a matter of a few hours. This will be explained to you in detail by the fertility centers genetic counselor.
If you have questions feel free to contact Sarah Ziegler and she will be happy to assist you.
This contact form is encrypted with the following as required by HIPPA regulations, SSL 3.0, RC4 with 128 bit encryption (High);
RSA with 1024 bit exchange. If you have any trouble, viewing this form please click this following link
www.mheresearchfoundation.org/ssl/pdg_contact.html
RSA with 1024 bit exchange. If you have any trouble, viewing this form please click this following link
www.mheresearchfoundation.org/ssl/pdg_contact.html
If you are Physician or Genetic Counselor would a second opinion or assistance related to care, the physician can to email
Sarah Ziegler directly or sign into the physician registry. At that point the MHE Research Foundation will put the Physician /
Genetic Counselor directly in contact with a Physician or Geneticists that could help sort out the medical issue directly. This
assistance is offered to medical professionals only. If you are a patient wanting a second opinion please use the directories
located on this webpage, if after you still need assistance contact Sarah Ziegler.
Sarah Ziegler directly or sign into the physician registry. At that point the MHE Research Foundation will put the Physician /
Genetic Counselor directly in contact with a Physician or Geneticists that could help sort out the medical issue directly. This
assistance is offered to medical professionals only. If you are a patient wanting a second opinion please use the directories
located on this webpage, if after you still need assistance contact Sarah Ziegler.
|
Wim Wuyts, Ph.D.
Supervisor DNA Diagnostics,
Department of Medical Genetics University
and University Hospital of Antwerp, Belgium
Partner in the EuroBoNeT consortium, a European Commission granted
Network of Excellence for studying the pathology and genetics of bone tumors.
Supervisor DNA Diagnostics,
Department of Medical Genetics University
and University Hospital of Antwerp, Belgium
Partner in the EuroBoNeT consortium, a European Commission granted
Network of Excellence for studying the pathology and genetics of bone tumors.
This presentation will open in a new browser window. Our foundation has found when using Fox Fire or Netscape
web browsers this presentation loads faster.
web browsers this presentation loads faster.
| To view the video presentation of MHE / MO / HME Genetics presented by Dr. Wuyts please Click Here |
Professional in Genetic Counseloring are advised to read this publication
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
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
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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
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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and informational purposes only. This website does not engage in the practice of medicine. In all cases we recommend that you consult your own physician
regarding any course of treatment or medicine.
and informational purposes only. This website does not engage in the practice of medicine. In all cases we recommend that you consult your own physician
regarding any course of treatment or medicine.
The MHE Research Foundation is proud to be an affiliate of the Society For Glycobiology
