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. 2023 Jul;104(1):136-138.
doi: 10.1111/cge.14308. Epub 2023 Feb 21.

Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome

Chiara Leoni  1 , Germana Viscogliosi  1 , Roberta Onesimo  1 , Tommaso Verdolotti  2 , Tommaso Biagini  3 , Tommaso Mazza  3 , Alessandro De Luca  4 , Lucrezia Perri  1 , Valentina Trevisan  1 , Elisabetta Flex  5 , Marco Tartaglia  6 , Giuseppe Zampino  1   7
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Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome

Chiara Leoni et al. Clin Genet. 2023 Jul.

Abstract

Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway. Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged spinal nerve roots, which are distinctive features of neurofibromatosis type 1. To date, a total of 16 patients with neurogenic tumors resembling neurofibromas/schwannomas and a molecularly confirmed diagnosis of a non-NF1 RASopathy have been reported, adding this further feature shared among RASopathies.

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REFERENCES

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    1. Leoni C, Tedesco M, Talloa D, et al. Enlarged spinal nerve roots in RASopathies: report of two cases. Eur J Med Genet. 2021;64(4):104187.

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