Have you found patients with more than one mutation on the RAS pathway? Yes. But sometimes we only look for one gene like PTPN11; we weren’t systematically looking at all but now we run a panel of maybe 10 or … Continued
We’ve got three kids, all grown up now but we also have a grandson who’s been diagnosed with Noonans. “J”, my youngest daughter, is one of the 30% for whom they don’t know what caused the Noonans but our grandson … Continued
This is a question on the future of genetics. With the advent of cell and gene therapies that’s started to emerge – we see more and more about on the media – is there any prospect for genetic disorders to … Continued
How open are doctors now to screening embryos for something like Noonans? This is very much a question of personal choice. The GP can talk through the options with the person. The normal test is 9 or 10 weeks into … Continued
If a child was tested in the past when they couldn’t identify the gene, should she be retested and if so, if the child isn’t seeing a paediatrician, should this be arranged through the GP or straight to the genetic … Continued
We have one son who was PTN11 Noonan Syndrome and another son who has a clinical diagnosis. Last year the son with the clinical diagnosis was retested for Noonan Syndrome and was found to have a chromosome sex duplication. Should … Continued
What research is going on for adults aged over 30 with Noonan Syndrome, and where can they get help and advice? A study with a cohort of families started in 1985 and most of them are now young adults in … Continued
My daughter’s mutation is MAP2k1. Quite often, when I see pictures of the pathway, that only comes under CFC Syndrome and Noonan’s isn’t mentioned on that mutation – I just wondered why? There is a definite overlap between Noonan Syndrome … Continued
When it doesn’t run in a family, is there any understanding of when the mutation occurs? Is it always pre-fertilisation or is there evidence that it can happen during development and then you get mosaicism? Mosaicism has been recorded for … Continued
My son’s eight and we’ve identified everything he has an issue with medically. I was wondering if any other medical problems can arise with Noonan’s later on in childhood or into adulthood, other than maybe delayed puberty. A lot of … Continued
