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Living with genetic diseases

Looking to understand more about Noonan syndrome

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avatar harrybynes

harrybynes

24/11/2020 at 14:00

avatar harrybynes

harrybynes

Last activity on 28/11/2020 at 10:28

Joined in 2020


1 comment posted | 1 in the Genetic diseases Forum


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Hi, I want to learn more about Noonan syndrome, symptoms and diagnosis. . Can you help me?

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avatar LilyLewes

LilyLewes

28/11/2020 at 10:34

avatar LilyLewes

LilyLewes

Last activity on 28/11/2020 at 10:39

Joined in 2020


1 comment posted | 1 in the Genetic diseases Forum


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Noonan syndrome is part of a group of related conditions known as RASopathies. Changes in one of several autosomal-dominant genes cause the syndrome. Around half of all cases are caused by mutations in the PTPN11 gene, with a further 10-15% of cases caused by SOS1 gene mutations. Mutations in the RAF1 and RIT1 genes are accounting for around 5% of cases And a further 15-20% of cases present with cause unknown. The PTPN11, SOS1, RAF1, and RIT1 genes are responsible for providing the instructions for making proteins needed for cell division and growth. Mutations in the genes associated with Noonan syndrome cause this protein to be active longer than normal rather than switching on and off in response to cell signals. This then disrupts cell growth regulation and leads to characteristic clinical features of Noonan syndrome. Understand more here, 


Looking to understand more about Noonan syndrome https://www.carenity.co.uk/forum/genetic-diseases/living-with-genetic-diseases/looking-to-understand-more-about-noonan-syndro-3879 2020-11-28 10:34:05

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