http://www.cnr.it/ontology/cnr/individuo/prodotto/ID124642

A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father (Abstract/Poster in atti di convegno)

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A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father (Abstract/Poster in atti di convegno) (literal)

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A.L. Gabriele, M. Ruggieri, C. Nucifora, A. Patitucci, T. Sprovieri, A. Magariello, R. Mazzei, F.L. Conforti, C. Ungaro, M. Muglia, A. Quattrone (2007)
A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father
in ASHG 57th Annual Meeting, San Diego
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

A.L. Gabriele, M. Ruggieri, C. Nucifora, A. Patitucci, T. Sprovieri, A. Magariello, R. Mazzei, F.L. Conforti, C. Ungaro, M. Muglia, A. Quattrone (literal)

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Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterised by the development of multiple nervous system tumours and skin and ocular abnormalities. The disease is caused by inactivating mutations in the NF2 tumour suppressor gene, located in 22q12. A total of 448 constitutional alterations have been reported in 55 literature reports. We report a novel missense mutation in exon 12 of the NF2 gene found in a severely affected boy and his healthy father. This mutation corresponded to an aminoacid substitution arginine-376 by glutamine (R376Q). Impairment of the particular functional domain of the novel missense mutation here reported could abolish the NF2 tumor suppressor activity determining the NF2 clinical phenotype we recorded. Notably, however, missense mutations are usually mild, often causing the mildest form of NF2. Remarkably, in this family we observed an early onset and severe phenotype in the boy and lack of clinical/imaging signs in his father who harboured the same NF2 gene mutation. (literal)

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Institute of Neurological Sciences (ISN), National Research Council (CNR) Piano Lago di Mangone (CS), Italy 2ISN, CNR, Section of Catania, Italy 3Department of Paediatrics, University of Catania, Italy 4Institute of Neurology, University of Magna Graecia, Catanzaro, Italy (literal)

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