Guest guest Posted August 9, 2004 Report Share Posted August 9, 2004 Simon, Thanks so much for sending this abstract. Amazing!! At 08:53 AM 8/9/2004, you wrote: >Hi everyone > >Here's the abstract from the Nature Genetics website relating to the paper >that has just been published. If anybody is interested the whole article can >be purchased for $30 from the site. > >Regards > >Simon > >Mutations in a new member of the chromodomain gene family cause CHARGE >syndrome > > >Lisenka E L M Vissers1, Conny M A van Ravenswaaij1, Admiraal2, Jane A >Hurst3, Bert B A de Vries1, Irene M Janssen1, Walter A van der Vliet1, >H L P G Huys1, Pieter J de Jong4, Ben C J Hamel1, F P M Schoenmakers1, >Han G Brunner1, Joris A Veltman1 & Ad Geurts van Kessel1 >1 Department of Human Genetics, University Medical Center Nijmegen, PO Box >9101, 6500 HB Nijmegen, The Netherlands. > >2 Department of Otorhinolaryngology, University Medical Center Nijmegen, PO >Box 9101, 6500 HB Nijmegen, The Netherlands. > >3 Department of Clinical Genetics, The Churchill Hospital, Old Road, >Headington, Oxford OX3 7LJ, UK. > >4 Children's Hospital Oakland Research Institute, BACPAC Resources, 747 >52nd Street, Oakland, California 94609-1809, USA. > >Correspondence should be addressed to Joris A Veltman >j.veltman@... > > >CHARGE syndrome is a common cause of congenital anomalies affecting several >tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping >microdeletion on chromosome 8q12 identified by array comparative genomic >hybridization in two individuals with CHARGE syndrome. Sequence analysis of >genes located in this region detected mutations in the gene CHD7 in 10 of 17 >individuals with CHARGE syndrome without microdeletions, accounting for the >disease in most affected individuals. > > > > >Membership of this email support groups does not constitute membership in >the CHARGE Syndrome Foundation. >For information about the CHARGE Syndrome >Foundation or to become a member (and get the newsletter) >please contact marion@... or visit >the CHARGE Syndrome Foundation web page >at <http://www.chargesyndrome.org>http://www.chargesyndrome.org >7th International >CHARGE Syndrome Conference, Miami Beach, Florida, July 22-24, 2005. >Information will be available at our website >www.chargesyndrome.org or by calling 1-. In Canada, you may >contact CHARGE Syndrome Canada at 1- (families), visit >www.chargesyndrome.ca, or email info@.... Thank you! > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2004 Report Share Posted August 9, 2004 Simon, Thanks so much for sending this abstract. Amazing!! At 08:53 AM 8/9/2004, you wrote: >Hi everyone > >Here's the abstract from the Nature Genetics website relating to the paper >that has just been published. If anybody is interested the whole article can >be purchased for $30 from the site. > >Regards > >Simon > >Mutations in a new member of the chromodomain gene family cause CHARGE >syndrome > > >Lisenka E L M Vissers1, Conny M A van Ravenswaaij1, Admiraal2, Jane A >Hurst3, Bert B A de Vries1, Irene M Janssen1, Walter A van der Vliet1, >H L P G Huys1, Pieter J de Jong4, Ben C J Hamel1, F P M Schoenmakers1, >Han G Brunner1, Joris A Veltman1 & Ad Geurts van Kessel1 >1 Department of Human Genetics, University Medical Center Nijmegen, PO Box >9101, 6500 HB Nijmegen, The Netherlands. > >2 Department of Otorhinolaryngology, University Medical Center Nijmegen, PO >Box 9101, 6500 HB Nijmegen, The Netherlands. > >3 Department of Clinical Genetics, The Churchill Hospital, Old Road, >Headington, Oxford OX3 7LJ, UK. > >4 Children's Hospital Oakland Research Institute, BACPAC Resources, 747 >52nd Street, Oakland, California 94609-1809, USA. > >Correspondence should be addressed to Joris A Veltman >j.veltman@... > > >CHARGE syndrome is a common cause of congenital anomalies affecting several >tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping >microdeletion on chromosome 8q12 identified by array comparative genomic >hybridization in two individuals with CHARGE syndrome. Sequence analysis of >genes located in this region detected mutations in the gene CHD7 in 10 of 17 >individuals with CHARGE syndrome without microdeletions, accounting for the >disease in most affected individuals. > > > > >Membership of this email support groups does not constitute membership in >the CHARGE Syndrome Foundation. >For information about the CHARGE Syndrome >Foundation or to become a member (and get the newsletter) >please contact marion@... or visit >the CHARGE Syndrome Foundation web page >at <http://www.chargesyndrome.org>http://www.chargesyndrome.org >7th International >CHARGE Syndrome Conference, Miami Beach, Florida, July 22-24, 2005. >Information will be available at our website >www.chargesyndrome.org or by calling 1-. In Canada, you may >contact CHARGE Syndrome Canada at 1- (families), visit >www.chargesyndrome.ca, or email info@.... Thank you! > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2004 Report Share Posted August 9, 2004 Simon, Thanks so much for sending this abstract. Amazing!! At 08:53 AM 8/9/2004, you wrote: >Hi everyone > >Here's the abstract from the Nature Genetics website relating to the paper >that has just been published. If anybody is interested the whole article can >be purchased for $30 from the site. > >Regards > >Simon > >Mutations in a new member of the chromodomain gene family cause CHARGE >syndrome > > >Lisenka E L M Vissers1, Conny M A van Ravenswaaij1, Admiraal2, Jane A >Hurst3, Bert B A de Vries1, Irene M Janssen1, Walter A van der Vliet1, >H L P G Huys1, Pieter J de Jong4, Ben C J Hamel1, F P M Schoenmakers1, >Han G Brunner1, Joris A Veltman1 & Ad Geurts van Kessel1 >1 Department of Human Genetics, University Medical Center Nijmegen, PO Box >9101, 6500 HB Nijmegen, The Netherlands. > >2 Department of Otorhinolaryngology, University Medical Center Nijmegen, PO >Box 9101, 6500 HB Nijmegen, The Netherlands. > >3 Department of Clinical Genetics, The Churchill Hospital, Old Road, >Headington, Oxford OX3 7LJ, UK. > >4 Children's Hospital Oakland Research Institute, BACPAC Resources, 747 >52nd Street, Oakland, California 94609-1809, USA. > >Correspondence should be addressed to Joris A Veltman >j.veltman@... > > >CHARGE syndrome is a common cause of congenital anomalies affecting several >tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping >microdeletion on chromosome 8q12 identified by array comparative genomic >hybridization in two individuals with CHARGE syndrome. Sequence analysis of >genes located in this region detected mutations in the gene CHD7 in 10 of 17 >individuals with CHARGE syndrome without microdeletions, accounting for the >disease in most affected individuals. > > > > >Membership of this email support groups does not constitute membership in >the CHARGE Syndrome Foundation. >For information about the CHARGE Syndrome >Foundation or to become a member (and get the newsletter) >please contact marion@... or visit >the CHARGE Syndrome Foundation web page >at <http://www.chargesyndrome.org>http://www.chargesyndrome.org >7th International >CHARGE Syndrome Conference, Miami Beach, Florida, July 22-24, 2005. >Information will be available at our website >www.chargesyndrome.org or by calling 1-. In Canada, you may >contact CHARGE Syndrome Canada at 1- (families), visit >www.chargesyndrome.ca, or email info@.... Thank you! > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2004 Report Share Posted August 9, 2004 I am not very smart on all this genetic stuff I guess! I really would love to understand what that means. Can somebody explain it to me? Thank you! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 , We are working on an explanation to help all of us understand this discovery and what to expect will happen next. We'll share it with you as soon as we can. Also the doctor who is part of the research team is preparing an article for our newsletter which will be available this fall - probably late September or early October. If you are a current member of the Foundation, you will receive the newsletter; if you aren't a member, it may be a good time to join. n -- n A Norbury, Executive Director CHARGE Syndrome Foundation, Inc. 2004 Parkade Blvd, Columbia MO 65202 USA phone/fax; (families only) mailto:mnorbury@... or mailto:marion@... web site: http://www.chargesyndrome.org ShKendra@... wrote: > I am not very smart on all this genetic stuff I guess! I really would > love to > understand what that means. Can somebody explain it to me? > > Thank you! > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 , We are working on an explanation to help all of us understand this discovery and what to expect will happen next. We'll share it with you as soon as we can. Also the doctor who is part of the research team is preparing an article for our newsletter which will be available this fall - probably late September or early October. If you are a current member of the Foundation, you will receive the newsletter; if you aren't a member, it may be a good time to join. n -- n A Norbury, Executive Director CHARGE Syndrome Foundation, Inc. 2004 Parkade Blvd, Columbia MO 65202 USA phone/fax; (families only) mailto:mnorbury@... or mailto:marion@... web site: http://www.chargesyndrome.org ShKendra@... wrote: > I am not very smart on all this genetic stuff I guess! I really would > love to > understand what that means. Can somebody explain it to me? > > Thank you! > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 , We are working on an explanation to help all of us understand this discovery and what to expect will happen next. We'll share it with you as soon as we can. Also the doctor who is part of the research team is preparing an article for our newsletter which will be available this fall - probably late September or early October. If you are a current member of the Foundation, you will receive the newsletter; if you aren't a member, it may be a good time to join. n -- n A Norbury, Executive Director CHARGE Syndrome Foundation, Inc. 2004 Parkade Blvd, Columbia MO 65202 USA phone/fax; (families only) mailto:mnorbury@... or mailto:marion@... web site: http://www.chargesyndrome.org ShKendra@... wrote: > I am not very smart on all this genetic stuff I guess! I really would > love to > understand what that means. Can somebody explain it to me? > > Thank you! > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 SIMON: GREAT news! (I guess I will eat crow, except they are infected in part with WEST NILE here ) PS MEG HEFNER will be in Toronto for a CHARGE workshop on OCTOBER 15/16, hopefully she can shed light on some of this very technical language. (There will be news and registration information for this out in the next week from CSC.) Ann Gloyn Canada > > > I am not very smart on all this genetic stuff I guess! I really would > > love to > > understand what that means. Can somebody explain it to me? > > > > Thank you! > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 SIMON: GREAT news! (I guess I will eat crow, except they are infected in part with WEST NILE here ) PS MEG HEFNER will be in Toronto for a CHARGE workshop on OCTOBER 15/16, hopefully she can shed light on some of this very technical language. (There will be news and registration information for this out in the next week from CSC.) Ann Gloyn Canada > > > I am not very smart on all this genetic stuff I guess! I really would > > love to > > understand what that means. Can somebody explain it to me? > > > > Thank you! > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 SIMON: GREAT news! (I guess I will eat crow, except they are infected in part with WEST NILE here ) PS MEG HEFNER will be in Toronto for a CHARGE workshop on OCTOBER 15/16, hopefully she can shed light on some of this very technical language. (There will be news and registration information for this out in the next week from CSC.) Ann Gloyn Canada > > > I am not very smart on all this genetic stuff I guess! I really would > > love to > > understand what that means. Can somebody explain it to me? > > > > Thank you! > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 I think that only professional in the field understand the method the Dutch team used. The University Medical Center St. Radboud (Nijmegen the Netherlands) made a press release which is more easily understand than the article. I translate the most important paragraphs. The release states that Charge Syndrome affects 1:12.000 new born. It is not a disease which runs in the family, parents and other family members are not sick. In Charge patients so far no useful deletions in the chromosomes have been found, which could have been a starting point point for further research. The UMC uses already for a few years the so called " micro array method " , " without this method we would not have been able to discover the gene " (Dr. van Ravenswaay) The micro array method makes the genetic defect visible, these are the so called micro deletions, missing parts of the dna which may comprise tens of genes. In a pilot study of 2 patients with Charge Syndrome these deletions could be shown. The next step was which genes are located on this missing piece of dna and next which of these genes are mutilated in other patients. Finally the researchers found one gene, which comprised in 10 of the 17 patients a mutations: the CHD7 gene. These finding is important for Charge patients and their parents.Dr. Van Ravenswaay: " The diagnosis of Charge is sometimes difficult, because the clinical picture is so variable. Now that we know the gene, we can determine via dna-diagnosis whether someone has the mutation. Then we are sure that the patient has Charge and we can guide and inform the patient and his/her parents. Moreover we can offer parents with a Charge child, in a next pregnancy a test whether the child will have the disease also, although the chance is small. The CHD7-gene belongs to the well known family of regulation genes, which functions as a kind of relay panel in switching on/off of other genes. A defect of this process lead to problems in the early embryological development. This explains why many organ systems are involved in Chare Syndrome. Partially Translated unauthorized press release from Dutch by Dr. Jan van Dijk, -Original Message----- From: ShKendra@... Sent: Monday, August 09, 2004 11:56 PM To: CHARGE Subject: Re: GENETICS I am not very smart on all this genetic stuff I guess! I really would love to understand what that means. Can somebody explain it to me? Thank you! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 Dr van Dijk Thanks alot for the explanation. Regards Simon Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 > The CHD7-gene belongs to the well known family of regulation genes, > which functions as a kind of relay panel in switching on/off of other > genes. A defect of this process lead to problems in the early > embryological development. This explains why many organ systems are > involved in Chare Syndrome. I also wonder about the genes impact on the neurotransmitters, and in daily neurological function. It seems it would be useful in more than just embryological development. Everything we describe with the " behaviors " and fluctuating states, hyper one day and unable to move the next, indicate difficulty with communication across the synapses. I would love to know more about that gene. Kim L Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 > The CHD7-gene belongs to the well known family of regulation genes, > which functions as a kind of relay panel in switching on/off of other > genes. A defect of this process lead to problems in the early > embryological development. This explains why many organ systems are > involved in Chare Syndrome. I also wonder about the genes impact on the neurotransmitters, and in daily neurological function. It seems it would be useful in more than just embryological development. Everything we describe with the " behaviors " and fluctuating states, hyper one day and unable to move the next, indicate difficulty with communication across the synapses. I would love to know more about that gene. Kim L Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2004 Report Share Posted August 10, 2004 > The CHD7-gene belongs to the well known family of regulation genes, > which functions as a kind of relay panel in switching on/off of other > genes. A defect of this process lead to problems in the early > embryological development. This explains why many organ systems are > involved in Chare Syndrome. I also wonder about the genes impact on the neurotransmitters, and in daily neurological function. It seems it would be useful in more than just embryological development. Everything we describe with the " behaviors " and fluctuating states, hyper one day and unable to move the next, indicate difficulty with communication across the synapses. I would love to know more about that gene. Kim L Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 11, 2004 Report Share Posted August 11, 2004 Thanksfor the press release! Bonnie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 11, 2004 Report Share Posted August 11, 2004 Thanksfor the press release! Bonnie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 11, 2004 Report Share Posted August 11, 2004 Thanksfor the press release! Bonnie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 13, 2004 Report Share Posted August 13, 2004 I read the book. A better book is Sensory Integration and the Child by A. Ayres. It is more detailed. My son, Will, has CHARGe and SID. We feel that his developemental delays are due to the SID. I also think that SID may very well be part of CHARGE. It stands to reason. Of course, the beauty of it is that you are suppose to be able to rewire the brain to integrate the sensory input more efficiently with the SI therapy. I have seen a tremendous change in my son, especially with the vestibular stimulation. I am also looking into theraputic listening/somoans therapy. My son is 2 and not walking or talking yet. It makes since to me that with the vestibular system being tied so closely with the ear functions....music/sound therapy should help. Unfortunately, I'm not guarenteed that he will wear the required head phones and the cost is $300+ not covered by insurance or medicaid. Kim McKie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 14, 2004 Report Share Posted August 14, 2004 So my questions are: Is the gene already defective or did something interrupt it to become defective and that is what the mutation is? Or, did either parent pass on a defective gene that exists in one of us? If so, then the parent's could pass it on to other children who would not be affective, but would now exist in them as well? Debbie Matasker Re: GENETICS I am not very smart on all this genetic stuff I guess! I really would love to understand what that means. Can somebody explain it to me? Thank you! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 14, 2004 Report Share Posted August 14, 2004 I know Meg has been on vacation and am sure she will send us a wonderful post with lots of info when she gets back. My impression is this really doesn't change any of the existing theories about what happens with CHARGE. Meg has written before a wonderful explanation of why they felt CHARGE was genetic and how that relates to the heritability of it. If I recall from Meg's post, the first child to have the CHARGE gene it would be a genetic mutation. No one really knows what causes the mutation, but no common teratogen has been found. Children who have the defective gene could then pass that gene on to their families leading to an inherited version in some instances. The biggest advantage for now, is that families where the CHARGE diagnosis is tentative they could use this to screen for it. My personal feeling is that even if the test came back negative, it would not rule out CHARGE completely. This finding is too new, no one knows if other genes are involved etc. In my mind it is a step forward, but not the whole answer. We'll all be glad to hear from Meg when she gets back. Kim L > So my questions are: > > Is the gene already defective or did something interrupt it to become > defective and that is what the mutation is? Or, did either parent pass on a > defective gene that exists in one of us? If so, then the parent's could > pass it on to other children who would not be affective, but would now exist > in them as well? > > Debbie Matasker > > Re: GENETICS > > > I am not very smart on all this genetic stuff I guess! I really would > love to > understand what that means. Can somebody explain it to me? > > Thank you! > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 14, 2004 Report Share Posted August 14, 2004 I know Meg has been on vacation and am sure she will send us a wonderful post with lots of info when she gets back. My impression is this really doesn't change any of the existing theories about what happens with CHARGE. Meg has written before a wonderful explanation of why they felt CHARGE was genetic and how that relates to the heritability of it. If I recall from Meg's post, the first child to have the CHARGE gene it would be a genetic mutation. No one really knows what causes the mutation, but no common teratogen has been found. Children who have the defective gene could then pass that gene on to their families leading to an inherited version in some instances. The biggest advantage for now, is that families where the CHARGE diagnosis is tentative they could use this to screen for it. My personal feeling is that even if the test came back negative, it would not rule out CHARGE completely. This finding is too new, no one knows if other genes are involved etc. In my mind it is a step forward, but not the whole answer. We'll all be glad to hear from Meg when she gets back. Kim L > So my questions are: > > Is the gene already defective or did something interrupt it to become > defective and that is what the mutation is? Or, did either parent pass on a > defective gene that exists in one of us? If so, then the parent's could > pass it on to other children who would not be affective, but would now exist > in them as well? > > Debbie Matasker > > Re: GENETICS > > > I am not very smart on all this genetic stuff I guess! I really would > love to > understand what that means. Can somebody explain it to me? > > Thank you! > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 14, 2004 Report Share Posted August 14, 2004 I know Meg has been on vacation and am sure she will send us a wonderful post with lots of info when she gets back. My impression is this really doesn't change any of the existing theories about what happens with CHARGE. Meg has written before a wonderful explanation of why they felt CHARGE was genetic and how that relates to the heritability of it. If I recall from Meg's post, the first child to have the CHARGE gene it would be a genetic mutation. No one really knows what causes the mutation, but no common teratogen has been found. Children who have the defective gene could then pass that gene on to their families leading to an inherited version in some instances. The biggest advantage for now, is that families where the CHARGE diagnosis is tentative they could use this to screen for it. My personal feeling is that even if the test came back negative, it would not rule out CHARGE completely. This finding is too new, no one knows if other genes are involved etc. In my mind it is a step forward, but not the whole answer. We'll all be glad to hear from Meg when she gets back. Kim L > So my questions are: > > Is the gene already defective or did something interrupt it to become > defective and that is what the mutation is? Or, did either parent pass on a > defective gene that exists in one of us? If so, then the parent's could > pass it on to other children who would not be affective, but would now exist > in them as well? > > Debbie Matasker > > Re: GENETICS > > > I am not very smart on all this genetic stuff I guess! I really would > love to > understand what that means. Can somebody explain it to me? > > Thank you! > > > > Quote Link to comment Share on other sites More sharing options...
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