Guest guest Posted December 1, 2003 Report Share Posted December 1, 2003 hi I finally got w/ our clinic Torin's mutations types....and i can't understand the paper thay gave me...I will copy some parts here...if anyone has any clue about it. well, my doubt is that he has 3 mutations...I would like to know what it means... " ...presence of a known deleterious mutation, delta F508 on exon 10 of the CFTR gene....presence of a known deleterious mutation, I1027T on the 17a of the CFTR gene. The deltaF508 and the I1027T have been known to occur on the same chromosome in many families....presence of potentially deleterious novel variation, Y913X on exon 15 of the CFTR gene. Stop condons are typically deleterious in nature. The result of this test indicate the heterozygous of the previouly described polymorphism, M470V on the exon 10 of the CFTR gene. this polymorphism is not currently believed to be disease causing as reported in the CF mutations data base compiled by CF genetic analysis consortium but may comtribute in unknown ways to ultimate phenotype. ....parents studies would be necessary to determine which mutation are on different chromossome.... " the doctor always want to test my husband and me...but coz of the $$ we can't do it at the moment. I don't know if I understood well...but there is a possibility that one of us don't be a carrier and the mutation y913x happened for the first time on torin...i don't know...it was really weird how the doc explained it to us...but I believe it is possible...the mutation come from a normal chomosome for the first time...if this novel variation showed up for the first time on my son... ok it is a crazy talk.....if anyone has any idea what it is.... I guess marion has some like that too.... love val Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 1, 2003 Report Share Posted December 1, 2003 Unfortunately, if Torin has been diagnosed with cf, both of you parents, passed a recessive gene on to him. Otherwise, if he only had one gene then he would be a carrier. When the lab writes " presence of potentially deleterious novel variation, Y913X on exon 15 " it means that it is a different variation from what the lab has to compare against, the type of mutations that that particular lab is using. It may be the fact that you are from Brazil that is a variation previously not recorded. But, with this disease mutations do not just occur. > hi > I finally got w/ our clinic Torin's mutations types....and i can't > understand the paper thay gave me...I will copy some parts here...if > anyone has any clue about it. well, my doubt is that he has 3 > mutations...I would like to know what it means... > " ...presence of a known deleterious mutation, delta F508 on exon 10 > of the CFTR gene....presence of a known deleterious mutation, I1027T > on the 17a of the CFTR gene. The deltaF508 and the I1027T have been > known to occur on the same chromosome in many families....presence > of potentially deleterious novel variation, Y913X on exon 15 of the > CFTR gene. Stop condons are typically deleterious in nature. > The result of this test indicate the heterozygous of the previouly > described polymorphism, M470V on the exon 10 of the CFTR gene. this > polymorphism is not currently believed to be disease causing as > reported in the CF mutations data base compiled by CF genetic > analysis consortium but may comtribute in unknown ways to ultimate > phenotype. > ...parents studies would be necessary to determine which mutation > are on different chromossome.... " > > the doctor always want to test my husband and me...but coz of the $$ > we can't do it at the moment. I don't know if I understood > well...but there is a possibility that one of us don't be a carrier > and the mutation y913x happened for the first time on torin...i > don't know...it was really weird how the doc explained it to > us...but I believe it is possible...the mutation come from a normal > chomosome for the first time...if this novel variation showed up for > the first time on my son... > ok > it is a crazy talk.....if anyone has any idea what it is.... > I guess marion has some like that too.... > > love > val Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 1, 2003 Report Share Posted December 1, 2003 I forgot to write that since Torin has a stop mutation he could benefit from gentamicin therapy. > > hi > > I finally got w/ our clinic Torin's mutations types....and i can't > > understand the paper thay gave me...I will copy some parts > here...if > > anyone has any clue about it. well, my doubt is that he has 3 > > mutations...I would like to know what it means... > > " ...presence of a known deleterious mutation, delta F508 on exon 10 > > of the CFTR gene....presence of a known deleterious mutation, > I1027T > > on the 17a of the CFTR gene. The deltaF508 and the I1027T have been > > known to occur on the same chromosome in many families....presence > > of potentially deleterious novel variation, Y913X on exon 15 of the > > CFTR gene. Stop condons are typically deleterious in nature. > > The result of this test indicate the heterozygous of the previouly > > described polymorphism, M470V on the exon 10 of the CFTR gene. this > > polymorphism is not currently believed to be disease causing as > > reported in the CF mutations data base compiled by CF genetic > > analysis consortium but may comtribute in unknown ways to ultimate > > phenotype. > > ...parents studies would be necessary to determine which mutation > > are on different chromossome.... " > > > > the doctor always want to test my husband and me...but coz of the > $$ > > we can't do it at the moment. I don't know if I understood > > well...but there is a possibility that one of us don't be a carrier > > and the mutation y913x happened for the first time on torin...i > > don't know...it was really weird how the doc explained it to > > us...but I believe it is possible...the mutation come from a normal > > chomosome for the first time...if this novel variation showed up > for > > the first time on my son... > > ok > > it is a crazy talk.....if anyone has any idea what it is.... > > I guess marion has some like that too.... > > > > love > > val Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 1, 2003 Report Share Posted December 1, 2003 I don't believe that this is entirely accurate. Spontanious mutations do occur in cystic fibrosis, from what I understand, but it is rare. Others on this list should be able to offer a more extensive explanation. ~ > mutations that that particular lab is using. It may be the fact that > you are from Brazil that is a variation previously not recorded. > But, with this disease mutations do not just occur. > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 2, 2003 Report Share Posted December 2, 2003 Bingo! n with love! Re: mutations > > I forgot to write that since Torin has a stop mutation he could > benefit from gentamicin therapy. > > > > > > > > > > hi > > > I finally got w/ our clinic Torin's mutations types....and i > can't > > > understand the paper thay gave me...I will copy some parts > > here...if > > > anyone has any clue about it. well, my doubt is that he has 3 > > > mutations...I would like to know what it means... > > > " ...presence of a known deleterious mutation, delta F508 on exon > 10 > > > of the CFTR gene....presence of a known deleterious mutation, > > I1027T > > > on the 17a of the CFTR gene. The deltaF508 and the I1027T have > been > > > known to occur on the same chromosome in many > families....presence > > > of potentially deleterious novel variation, Y913X on exon 15 of > the > > > CFTR gene. Stop condons are typically deleterious in nature. > > > The result of this test indicate the heterozygous of the > previouly > > > described polymorphism, M470V on the exon 10 of the CFTR gene. > this > > > polymorphism is not currently believed to be disease causing as > > > reported in the CF mutations data base compiled by CF genetic > > > analysis consortium but may comtribute in unknown ways to > ultimate > > > phenotype. > > > ...parents studies would be necessary to determine which mutation > > > are on different chromossome.... " > > > > > > the doctor always want to test my husband and me...but coz of the > > $$ > > > we can't do it at the moment. I don't know if I understood > > > well...but there is a possibility that one of us don't be a > carrier > > > and the mutation y913x happened for the first time on torin...i > > > don't know...it was really weird how the doc explained it to > > > us...but I believe it is possible...the mutation come from a > normal > > > chomosome for the first time...if this novel variation showed up > > for > > > the first time on my son... > > > ok > > > it is a crazy talk.....if anyone has any idea what it is.... > > > I guess marion has some like that too.... > > > > > > love > > > val > > > > ------------------------------------------- > The opinions and information exchanged on this list should IN NO WAY > be construed as medical advice. > > PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. > > ------------------------------------ > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 2, 2003 Report Share Posted December 2, 2003 Actually, it is a " stop " enzyme, which is a good type of mutation! Love, n Re: mutations > Unfortunately, if Torin has been diagnosed with cf, both of you > parents, passed a recessive gene on to him. Otherwise, if he only > had one gene then he would be a carrier. > When the lab writes " presence of potentially deleterious novel > variation, Y913X on exon 15 " it means that it is a different > variation from what the lab has to compare against, the type of > mutations that that particular lab is using. It may be the fact that > you are from Brazil that is a variation previously not recorded. > But, with this disease mutations do not just occur. > > > > > > > > > > > > > > > hi > > I finally got w/ our clinic Torin's mutations types....and i can't > > understand the paper thay gave me...I will copy some parts > here...if > > anyone has any clue about it. well, my doubt is that he has 3 > > mutations...I would like to know what it means... > > " ...presence of a known deleterious mutation, delta F508 on exon 10 > > of the CFTR gene....presence of a known deleterious mutation, > I1027T > > on the 17a of the CFTR gene. The deltaF508 and the I1027T have been > > known to occur on the same chromosome in many families....presence > > of potentially deleterious novel variation, Y913X on exon 15 of the > > CFTR gene. Stop condons are typically deleterious in nature. > > The result of this test indicate the heterozygous of the previouly > > described polymorphism, M470V on the exon 10 of the CFTR gene. this > > polymorphism is not currently believed to be disease causing as > > reported in the CF mutations data base compiled by CF genetic > > analysis consortium but may comtribute in unknown ways to ultimate > > phenotype. > > ...parents studies would be necessary to determine which mutation > > are on different chromossome.... " > > > > the doctor always want to test my husband and me...but coz of the > $$ > > we can't do it at the moment. I don't know if I understood > > well...but there is a possibility that one of us don't be a carrier > > and the mutation y913x happened for the first time on torin...i > > don't know...it was really weird how the doc explained it to > > us...but I believe it is possible...the mutation come from a normal > > chomosome for the first time...if this novel variation showed up > for > > the first time on my son... > > ok > > it is a crazy talk.....if anyone has any idea what it is.... > > I guess marion has some like that too.... > > > > love > > val > > > > ------------------------------------------- > The opinions and information exchanged on this list should IN NO WAY > be construed as medical advice. > > PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. > > ------------------------------------ > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 2, 2003 Report Share Posted December 2, 2003 ; you post is much appreciated; with so many mutations having been found at this time, spontaneous, recent, rare or common, the big problem is to figure out which other than the first 89 are disease-producing. Besides, gene mutation in general occurs at close to 10%, giving us charmers such as Cepa cia, Mucoid PA, various forms of MRSA, HIV, Hepatitis C, Hanta Virus and Ebola, to say nothing of poliomyelitis! This is complex almost beyond one's grasp when one first approaches the subject. One is tempted to thing that an " exon " is a brand of gasoline, not a mutation locus! Wild! Love to all at cfparents, n Rojas Re: mutations > I don't believe that this is entirely accurate. Spontanious > mutations do occur in cystic fibrosis, from what I understand, but > it is rare. Others on this list should be able to offer a more > extensive explanation. > > ~ > > > > > mutations that that particular lab is using. It may be the fact > that > > you are from Brazil that is a variation previously not recorded. > > But, with this disease mutations do not just occur. > > > > > > > > > > > ------------------------------------------- > The opinions and information exchanged on this list should IN NO WAY > be construed as medical advice. > > PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. > > ------------------------------------ > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 2, 2003 Report Share Posted December 2, 2003 actually, mutations can occur spontaneously. But it is EXTREMELY rare. Re: mutations Unfortunately, if Torin has been diagnosed with cf, both of you parents, passed a recessive gene on to him. Otherwise, if he only had one gene then he would be a carrier. When the lab writes " presence of potentially deleterious novel variation, Y913X on exon 15 " it means that it is a different variation from what the lab has to compare against, the type of mutations that that particular lab is using. It may be the fact that you are from Brazil that is a variation previously not recorded. But, with this disease mutations do not just occur. > hi > I finally got w/ our clinic Torin's mutations types....and i can't > understand the paper thay gave me...I will copy some parts here...if > anyone has any clue about it. well, my doubt is that he has 3 > mutations...I would like to know what it means... > " ...presence of a known deleterious mutation, delta F508 on exon 10 > of the CFTR gene....presence of a known deleterious mutation, I1027T > on the 17a of the CFTR gene. The deltaF508 and the I1027T have been > known to occur on the same chromosome in many families....presence > of potentially deleterious novel variation, Y913X on exon 15 of the > CFTR gene. Stop condons are typically deleterious in nature. > The result of this test indicate the heterozygous of the previouly > described polymorphism, M470V on the exon 10 of the CFTR gene. this > polymorphism is not currently believed to be disease causing as > reported in the CF mutations data base compiled by CF genetic > analysis consortium but may comtribute in unknown ways to ultimate > phenotype. > ...parents studies would be necessary to determine which mutation > are on different chromossome.... " > > the doctor always want to test my husband and me...but coz of the $$ > we can't do it at the moment. I don't know if I understood > well...but there is a possibility that one of us don't be a carrier > and the mutation y913x happened for the first time on torin...i > don't know...it was really weird how the doc explained it to > us...but I believe it is possible...the mutation come from a normal > chomosome for the first time...if this novel variation showed up for > the first time on my son... > ok > it is a crazy talk.....if anyone has any idea what it is.... > I guess marion has some like that too.... > > love > val Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 2, 2003 Report Share Posted December 2, 2003 , Thank you for the correction, I did not know that spontaneous mutations do occur in CF. I will read further on this, I did not get the impression that it was implied on what was written on the post, though. Thanks, > > > mutations that that particular lab is using. It may be the fact > that > > you are from Brazil that is a variation previously not recorded. > > But, with this disease mutations do not just occur. > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 2, 2003 Report Share Posted December 2, 2003 Thanks > > hi > > I finally got w/ our clinic Torin's mutations types....and i can't > > understand the paper thay gave me...I will copy some parts > here...if > > anyone has any clue about it. well, my doubt is that he has 3 > > mutations...I would like to know what it means... > > " ...presence of a known deleterious mutation, delta F508 on exon 10 > > of the CFTR gene....presence of a known deleterious mutation, > I1027T > > on the 17a of the CFTR gene. The deltaF508 and the I1027T have been > > known to occur on the same chromosome in many families....presence > > of potentially deleterious novel variation, Y913X on exon 15 of the > > CFTR gene. Stop condons are typically deleterious in nature. > > The result of this test indicate the heterozygous of the previouly > > described polymorphism, M470V on the exon 10 of the CFTR gene. this > > polymorphism is not currently believed to be disease causing as > > reported in the CF mutations data base compiled by CF genetic > > analysis consortium but may comtribute in unknown ways to ultimate > > phenotype. > > ...parents studies would be necessary to determine which mutation > > are on different chromossome.... " > > > > the doctor always want to test my husband and me...but coz of the > $$ > > we can't do it at the moment. I don't know if I understood > > well...but there is a possibility that one of us don't be a carrier > > and the mutation y913x happened for the first time on torin...i > > don't know...it was really weird how the doc explained it to > > us...but I believe it is possible...the mutation come from a normal > > chomosome for the first time...if this novel variation showed up > for > > the first time on my son... > > ok > > it is a crazy talk.....if anyone has any idea what it is.... > > I guess marion has some like that too.... > > > > love > > val > > > Quote Link to comment Share on other sites More sharing options...
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