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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Label
  • A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER (Abstract/Poster in atti di convegno) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Alternative label
  • 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 XXXVIII Congresso Societa' Italiana di Neurologia, FIRENZE
    (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)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • We studied the NF2 gene in a severely affected boy and his family.Screening of the entire coding region sequence of the NF2 gene by DHPLC analysis showed a modified pattern for exon 12. Direct sequencing of exon 2 revealed a heterozygous missense mutation at the nucleotide 1127 resulting in an aminoacid substitution arginine-376 by glutamine (R376Q). The mutation was also detected in the father’s patient and was not found in 100 normal chromosomes.Impairment of the functional domain of the missense mutation here reported (R376Q) could abolish the NF2 tumour- 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)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Neurological Sciences (ISN), National Research Council (CNR), Piano Lago di Mangone (CS), Italy ISN, CNR, Section of Catania, Italy Department of Paediatrics, University of Catania, Italy Institute of Neurology, University of Magna Graecia, Catanzaro, Italy (literal)
Titolo
  • A NOVEL MISSENSE MUTATION OF THE NF2 GENE IN A SEVERELY AFFECTED BOY AND HIS HEALTHY FATHER (literal)
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