Guest guest Posted January 28, 2001 Report Share Posted January 28, 2001 ine, This is a good result!!!! As I'm sure it has been explained to you, they are not completely sure because they have not seen this subtle mutation before, but if it is, it is considered a missense mutation(usually associated with the mildest form of nf2). And if I'm not wrong, they are saying that the other ERM proteins(Moezrin ezrin,radixin ) are still present which presumably has even more of a mitigating effect. So, you have something to hang your hat on, but it isn't too scary. Westmead have told me I have to pay (same price). Do you mean medicare gives a proportion back? I was on the understanding I was on my own here. We are sending of sample to Uk this week. Louis starts new school tomorrow. And so ends 6 weeks of an adult/child ratio of 1/10 (always at least 3 ring-ins). I just had 8am phone appt with blood expert and tomorrow, after taking Louis to school ( and others), I have an appt. with oncologist in Sydney.Thurs it is Neuro at Westmead...... glad to see you are doing so well rosemary. on 29/1/01 8:14 AM, ine Stanton at pstanton@... wrote: > Rosemary > Nice to hear from you, how is Louis going? Back to school and fighting fit, > I hope. > > The blood tests are expensive, but covered my Medicare. The cost is around > $1,600 and the blood has o be sent to the UK for testing. It was arranged > at my first visit with Clinical Geneticist, Dr Alison Colley at Liverpool > Hospital. As with any DNA testing there are quite a few signatures required. > You may like to contact her direct on (02) 9828 4665 to discuss. She is > listed on the committee of NF Assoc of Aust News, along with Dr > North and others. will have his blood tests, if confirmed, anyone > at age risk will first only need the blood test to confirm. > > As for Brendon, I hope he has made the right choice. > > Heres the lingo from my report > > MUTATION Leu398>Pro (nt 1193t>c) > COMMENTS: During SSCP/heteroduplex analysis of ine's sample a shift was > observed in exon 12 of the NF2 (schwannomin) gene. This was subsequently > sequenced as Leu398>Pro (nt 1193t>c) a missense mutation. This mutation has > not previously been described in NF2 patients but the affected Leucine > residue is absolutely conserved across the related genes Moesin, Radixin and > Ezrin (REF: Troffater et al (1992) cell, 72, 791-800. Although we cannot be > cerain that this mutation is pathogenic, in our opinion it is likely to be. > We note that ine had an affected father and has an affected son, we > recommend that they are tested for Leu398>Pro to confirm that this mutation > is inherited with disease. > NOTE: Mutations have been classified according to Genbank accession no. > L11353.Nucleotide 1 has been counted as the first nucleotide of the > translation initiation codon. > > This is a long e-mail, sorry. > ine > Hi ine > > >> Welcome back, >> >> I am curious about what you mean when you say they have never seen this >> defect(mutation?) before ? But enough similarities to confirm. >> >> These tests are expensive and our insurance doesn't cover it(aus), so I > hope >> they give you a bit more info than that.... >> >> Do they tell you what sort of mutation? >> go on iine, hit me with the lingo. >> >> As for son, hey I have three out of control ratbags here, Kids Rule, ok? >> >> You can only guide him, Who knows he may actually be doing exactly the > right >> thing. What about passing on crew stories(authors permitting). So it is > not >> just coming from you but other concerned folks as well. Just a thought. >> rosemary >> >> >> >> >> > > > > Quote Link to comment Share on other sites More sharing options...
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