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Re: [Myotubular_Myopathy] Re: odds of being a carrier of MTM

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  • kristin cypher
    Hi! I ve been following this discussion, but had to look up Sebi s mutation diagnosis to know how to respond. Like some of the boys, Sebi s mutation had not
    Message 1 of 15 , Mar 31, 2006
      Hi!

      I've been following this discussion, but had to look up Sebi's mutation diagnosis to know how to respond.

      Like some of the boys, Sebi's mutation had not been seen before, but that didn't prevent the University of Chicgo from finding it!  In the letter we have, they indicated that there are certain locations along the DNA in which they expect the mutation to be - basically within a long-ish strand of proteins - and although not seen before, Sebi's mutation was found in this general area.  I don't know if this means that the other boys who were tested had mutations that were not anywhere within the area, or just not in the particular proteins that have been identified.  At any rate, by locating the mutation, they were able to test me (carrier, of course!), my brother (he has the same mutation), and my sister (not a carrier).  As Shannon mentioned, finding the mutation is really important, because it allows other family members to get a diagnosis.  My mother and her mother have not yet been tested, but that is because my mother carries the mutation for sure because both my brother and I have it, and my grandmother we didn't want tested, for fear that she would be very upset if everything stemmed from her. 

      I hope this sheds some light!  Where was your genetic testing done?  Perhaps it would help to send the bloodwork on to another facility, for a 2nd opinion??  I know that if you are thinking of having additional children, the identification of the mutation would be so valuable.

      Warmly,
      Kristin

      Oh!  One other thing about the mutation - where it is along the strand makes a huge difference in regard to how severe the condition manifests.  Basically, if the mutation is 'early' along the strand, it affects everything after it, and the case is more severe.  Also, if the replaced protein is very different from the one that typically is found in the location, the mutation will be more severe.  In Sebi's case, his mutation is at the 'end' of the typically affected area, and the mutated protein is very similar in size to the one that it replaced, and all of these things contribute to his milder presentation.

      Shannon <smashintwo66@...> wrote:
      Javad is also one who has had the DNA test, but they could not find
      the mutation. At first, I was confused until they said that approx 20-
      30% of the mutations are unknown at this time.

      We believe Javad has x-linked as well, we just wait until they can
      identify it, so I can be tested, so my daughter can be tested...

      Shannon





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    • jonnynomates1
      Hello You raise quite an interesting point about getting the DNA re tested at another lab, it may well be (and probably is) that they cant find Archie s
      Message 2 of 15 , Apr 2, 2006
        Hello

        You raise quite an interesting point about getting the DNA re tested
        at another lab, it may well be (and probably is) that they cant find
        Archie's mutation even at another lab, but it would be nice to have
        this double checked.

        Has anyone else on the board had the DNA re tested at another lab?

        From what I understand there is only 1 lab in Europe (germany)
        and maybe another couple in the US that have the knowledge to carry
        out the test.

        Archie's DNA was already tested in Germany and as you know it drew a
        blank.

        If anyone has a contact or number or geneticist's name in the US it
        would be very useful as we may well look into getting it Re tested.

        thanks

        Jon and Emma




        --- In Myotubular_Myopathy@yahoogroups.com, kristin cypher
        <myrkrida@...> wrote:
        >
        > Hi!
        >
        > I've been following this discussion, but had to look up Sebi's
        mutation diagnosis to know how to respond.
        >
        > Like some of the boys, Sebi's mutation had not been seen before,
        but that didn't prevent the University of Chicgo from finding it!
        In the letter we have, they indicated that there are certain
        locations along the DNA in which they expect the mutation to be -
        basically within a long-ish strand of proteins - and although not
        seen before, Sebi's mutation was found in this general area. I
        don't know if this means that the other boys who were tested had
        mutations that were not anywhere within the area, or just not in the
        particular proteins that have been identified. At any rate, by
        locating the mutation, they were able to test me (carrier, of
        course!), my brother (he has the same mutation), and my sister (not
        a carrier). As Shannon mentioned, finding the mutation is really
        important, because it allows other family members to get a
        diagnosis. My mother and her mother have not yet been tested, but
        that is because my mother carries the mutation for sure because both
        my
        > brother and I have it, and my grandmother we didn't want tested,
        for fear that she would be very upset if everything stemmed from
        her.
        >
        > I hope this sheds some light! Where was your genetic testing
        done? Perhaps it would help to send the bloodwork on to another
        facility, for a 2nd opinion?? I know that if you are thinking of
        having additional children, the identification of the mutation would
        be so valuable.
        >
        > Warmly,
        > Kristin
        >
        > Oh! One other thing about the mutation - where it is along the
        strand makes a huge difference in regard to how severe the condition
        manifests. Basically, if the mutation is 'early' along the strand,
        it affects everything after it, and the case is more severe. Also,
        if the replaced protein is very different from the one that
        typically is found in the location, the mutation will be more
        severe. In Sebi's case, his mutation is at the 'end' of the
        typically affected area, and the mutated protein is very similar in
        size to the one that it replaced, and all of these things contribute
        to his milder presentation.
        >
        > Shannon <smashintwo66@...> wrote: Javad is also one who has had
        the DNA test, but they could not find
        > the mutation. At first, I was confused until they said that
        approx 20-
        > 30% of the mutations are unknown at this time.
        >
        > We believe Javad has x-linked as well, we just wait until they
        can
        > identify it, so I can be tested, so my daughter can be tested...
        >
        > Shannon
        >
        >
        >
        >
        >
        > ---------------------------------
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        >
        >
        > Visit your group "Myotubular_Myopathy" on the web.
        >
        > To unsubscribe from this group, send an email to:
        > Myotubular_Myopathy-unsubscribe@yahoogroups.com
        >
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        Service.
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        >
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        >
        >
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      • Jess - faewyn@ausaqua.net
        Jacks DNA was tested here at the Hospital where he was born, in Adelaide, South Australia. Jess
        Message 3 of 15 , Apr 2, 2006
          Jacks DNA was tested here at the Hospital where he was born, in Adelaide, South Australia.


          Jess



          jonnynomates1 wrote:


          Hello

          You raise quite an interesting point about getting the DNA re tested
          at another lab, it may well be (and probably is) that they cant find
          Archie's mutation even at another lab, but it would be nice to have
          this double checked.

          Has anyone else on the board had the DNA re tested at another lab?

          >From what I understand there is only 1 lab in Europe (germany)
          and maybe another couple in the US that have the knowledge to carry
          out the test.

          Archie's DNA was already tested in Germany and as you know it drew a
          blank.

          If anyone has a contact or number or geneticist's name in the US it
          would be very useful as we may well look into getting it Re tested.

          thanks

          Jon and Emma




          --- In Myotubular_Myopathy@yahoogroups.com, kristin cypher
          <myrkrida@...> wrote:
          >
          > Hi!

          >  I've been following this discussion, but had to look up Sebi's
          mutation diagnosis to know how to respond.

          >  Like some of the boys, Sebi's mutation had not been seen before,
          but that didn't prevent the University of Chicgo from finding it! 
          In the letter we have, they indicated that there are certain
          locations along the DNA in which they expect the mutation to be -
          basically within a long-ish strand of proteins - and although not
          seen before, Sebi's mutation was found in this general area.  I
          don't know if this means that the other boys who were tested had
          mutations that were not anywhere within the area, or just not in the
          particular proteins that have been identified.  At any rate, by
          locating the mutation, they were able to test me (carrier, of
          course!), my brother (he has the same mutation), and my sister (not
          a carrier).  As Shannon mentioned, finding the mutation is really
          important, because it allows other family members to get a
          diagnosis.  My mother and her mother have not yet been tested, but
          that is because my mother carries the mutation for sure because both
          my
          >  brother and I have it, and my grandmother we didn't want tested,
          for fear that she would be very upset if everything stemmed from
          her. 

          >  I hope this sheds some light!  Where was your genetic testing
          done?  Perhaps it would help to send the bloodwork on to another
          facility, for a 2nd opinion??  I know that if you are thinking of
          having additional children, the identification of the mutation would
          be so valuable.

          >  Warmly,
          >  Kristin

          >  Oh!  One other thing about the mutation - where it is along the
          strand makes a huge difference in regard to how severe the condition
          manifests.  Basically, if the mutation is 'early' along the strand,
          it affects everything after it, and the case is more severe.  Also,
          if the replaced protein is very different from the one that
          typically is found in the location, the mutation will be more
          severe.  In Sebi's case, his mutation is at the 'end' of the
          typically affected area, and the mutated protein is very similar in
          size to the one that it replaced, and all of these things contribute
          to his milder presentation.
          >
          > Shannon <smashintwo66@...> wrote:    Javad is also one who has had
          the DNA test, but they could not find
          >  the mutation. At first, I was confused until they said that
          approx 20-
          >  30% of the mutations are unknown at this time.

          >  We believe Javad has x-linked as well, we just wait until they
          can
          >  identify it, so I can be tested, so my daughter can be tested...

          >  Shannon



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        • Kimberly Kowalski
          hello i dont have our paperwork with me right now but i know that sam and i were both tested thru the university of chicago as well. his particular mutation
          Message 4 of 15 , Apr 3, 2006
            hello
            i dont have our paperwork with me right now but i know
            that sam and i were both tested thru the university of
            chicago as well. his particular mutation was a new one
            as well. i can gather their contact info if that would
            be helpful for you.
            hth,
            k

            --- jonnynomates1 <jonnynomates1@...> wrote:

            >
            >
            > Hello
            >
            > You raise quite an interesting point about getting
            > the DNA re tested
            > at another lab, it may well be (and probably is)
            > that they cant find
            > Archie's mutation even at another lab, but it would
            > be nice to have
            > this double checked.
            >
            > Has anyone else on the board had the DNA re tested
            > at another lab?
            >
            > From what I understand there is only 1 lab in Europe
            > (germany)
            > and maybe another couple in the US that have the
            > knowledge to carry
            > out the test.
            >
            > Archie's DNA was already tested in Germany and as
            > you know it drew a
            > blank.
            >
            > If anyone has a contact or number or geneticist's
            > name in the US it
            > would be very useful as we may well look into
            > getting it Re tested.
            >
            > thanks
            >
            > Jon and Emma
            >
            >
            >
            >
            > --- In Myotubular_Myopathy@yahoogroups.com, kristin
            > cypher
            > <myrkrida@...> wrote:
            > >
            > > Hi!
            > >
            > > I've been following this discussion, but had to
            > look up Sebi's
            > mutation diagnosis to know how to respond.
            > >
            > > Like some of the boys, Sebi's mutation had not
            > been seen before,
            > but that didn't prevent the University of Chicgo
            > from finding it!
            > In the letter we have, they indicated that there are
            > certain
            > locations along the DNA in which they expect the
            > mutation to be -
            > basically within a long-ish strand of proteins - and
            > although not
            > seen before, Sebi's mutation was found in this
            > general area. I
            > don't know if this means that the other boys who
            > were tested had
            > mutations that were not anywhere within the area, or
            > just not in the
            > particular proteins that have been identified. At
            > any rate, by
            > locating the mutation, they were able to test me
            > (carrier, of
            > course!), my brother (he has the same mutation), and
            > my sister (not
            > a carrier). As Shannon mentioned, finding the
            > mutation is really
            > important, because it allows other family members to
            > get a
            > diagnosis. My mother and her mother have not yet
            > been tested, but
            > that is because my mother carries the mutation for
            > sure because both
            > my
            > > brother and I have it, and my grandmother we
            > didn't want tested,
            > for fear that she would be very upset if everything
            > stemmed from
            > her.
            > >
            > > I hope this sheds some light! Where was your
            > genetic testing
            > done? Perhaps it would help to send the bloodwork
            > on to another
            > facility, for a 2nd opinion?? I know that if you
            > are thinking of
            > having additional children, the identification of
            > the mutation would
            > be so valuable.
            > >
            > > Warmly,
            > > Kristin
            > >
            > > Oh! One other thing about the mutation - where
            > it is along the
            > strand makes a huge difference in regard to how
            > severe the condition
            > manifests. Basically, if the mutation is 'early'
            > along the strand,
            > it affects everything after it, and the case is more
            > severe. Also,
            > if the replaced protein is very different from the
            > one that
            > typically is found in the location, the mutation
            > will be more
            > severe. In Sebi's case, his mutation is at the
            > 'end' of the
            > typically affected area, and the mutated protein is
            > very similar in
            > size to the one that it replaced, and all of these
            > things contribute
            > to his milder presentation.
            > >
            > > Shannon <smashintwo66@...> wrote: Javad is also
            > one who has had
            > the DNA test, but they could not find
            > > the mutation. At first, I was confused until they
            > said that
            > approx 20-
            > > 30% of the mutations are unknown at this time.
            > >
            > > We believe Javad has x-linked as well, we just
            > wait until they
            > can
            > > identify it, so I can be tested, so my daughter
            > can be tested...
            > >
            > > Shannon
            > >
            > >
            > >
            > >
            > >
            > > ---------------------------------
            > > YAHOO! GROUPS LINKS
            > >
            > >
            > > Visit your group "Myotubular_Myopathy" on the
            > web.
            > >
            > > To unsubscribe from this group, send an email
            > to:
            > > Myotubular_Myopathy-unsubscribe@yahoogroups.com
            > >
            > > Your use of Yahoo! Groups is subject to the
            > Yahoo! Terms of
            > Service.
            > >
            > >
            > > ---------------------------------
            > >
            > >
            > >
            > >
            > >
            > > ---------------------------------
            > > New Yahoo! Messenger with Voice. Call regular
            > phones from your PC
            > for low, low rates.
            > >
            >
            >
            >
            >
            >


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          • reebschar
            Charlie is in the same boat - but his doctor sent his dna sample to dr. laporte in france(the dr who discovered the xlmtm gene. he did a protein test on it and
            Message 5 of 15 , Apr 8, 2006
              Charlie is in the same boat - but his doctor sent his dna sample to
              dr. laporte in france(the dr who discovered the xlmtm gene. he did a
              protein test on it and confirmed it was xlmtm but he is still looking
              for the mutation.
              i also have a daughter that we have to keep in mind for all of this!
              --- In Myotubular_Myopathy@yahoogroups.com, "Shannon"
              <smashintwo66@...> wrote:
              >
              > Javad is also one who has had the DNA test, but they could not find
              > the mutation. At first, I was confused until they said that approx
              20-
              > 30% of the mutations are unknown at this time.
              >
              > We believe Javad has x-linked as well, we just wait until they can
              > identify it, so I can be tested, so my daughter can be tested...
              >
              > Shannon
              >
            • pinksarah21
              reebschar, are you saying that Charlie had a negative DNA test for XL-MTM, but was still diagnosed as positive for XL-MTM (based on a protein test done by Dr.
              Message 6 of 15 , Apr 12, 2006
                reebschar, are you saying that Charlie had a negative DNA test for
                XL-MTM, but was still diagnosed as positive for XL-MTM (based on a
                protein test done by Dr. Laporte)?? If so, what protein did they
                test for, myotubularin? My son is biopsy positive, but DNA test
                negative, so I am wondering if I should see about getting whatever
                protein test done, like you had done for Charlie. Any insights would
                be much appreciated. -Pat


                --- In Myotubular_Myopathy@yahoogroups.com, "reebschar" <c-
                reber@...> wrote:
                >
                > Charlie is in the same boat - but his doctor sent his dna sample
                to
                > dr. laporte in france(the dr who discovered the xlmtm gene. he did
                a
                > protein test on it and confirmed it was xlmtm but he is still
                looking
                > for the mutation.
                > i also have a daughter that we have to keep in mind for all of
                this!
                > --- In Myotubular_Myopathy@yahoogroups.com, "Shannon"
                > <smashintwo66@> wrote:
                > >
                > > Javad is also one who has had the DNA test, but they could not
                find
                > > the mutation. At first, I was confused until they said that
                approx
                > 20-
                > > 30% of the mutations are unknown at this time.
                > >
                > > We believe Javad has x-linked as well, we just wait until they
                can
                > > identify it, so I can be tested, so my daughter can be tested...
                > >
                > > Shannon
                > >
                >
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