HNPP Due To A Novel Frameshift Mutation Of The PMP22 Gene (Comunicazione a convegno)

Type
Label
  • HNPP Due To A Novel Frameshift Mutation Of The PMP22 Gene (Comunicazione a convegno) (literal)
Anno
  • 2006-01-01T00:00:00+01:00 (literal)
Alternative label
  • A. Patitucci, M. Muglia, R. Rizzi, C. Ungaro, F.L. Conforti, Al. Gabriele, A. Magariello, R. Mazzei, L. Motti, R. Saladini, T. Sprovier, N. Marcello, A.Quattrone (2006)
    HNPP Due To A Novel Frameshift Mutation Of The PMP22 Gene
    in XXXVII Congresso della Società Italiana di Neurologia, SIN, Bari
    (literal)
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  • A. Patitucci, M. Muglia, R. Rizzi, C. Ungaro, F.L. Conforti, Al. Gabriele, A. Magariello, R. Mazzei, L. Motti, R. Saladini, T. Sprovier, N. Marcello, A.Quattrone (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • Point mutations in the PMP22 gene are responsible for rare HNPP phenotype. Up to now, 11 point mutations of PMP22 have been associated with HNPP. We investigated a 17 years old girl who was referred at our clinic because she noted a four months history of severe hypesthesia at the 4th and 5th fingers of the left hand, that persisted for about two months, and then spontaneously regressed. Electrodiagnostic test revealed a sensory motor demyelinating neuropathy showing a conduction block in the left ulnar nerve at the elbow. Screening of the entire coding sequence of the PMP22 gene by DHPLC analysis showed a modified pattern for exon 2. Direct sequencing of exon 2 revealed a heterozygous deletion of one tymidine at position 11. The deletion was also confirmed by cloning of fragment containing exon 2. The mutation was also detected in the father’s patient, but it was not found in 100 normal chromosomes. The novel mutation here reported c.11del T creates a shift on the reading frame starting at codon 4 and lead to the introduction of a premature stop at codon 6. The c.11delT would lead to a truncated protein that is rapidly degraded resulting in reduced dosage of PMP22, comparable to the 1.5Mb deletion. (literal)
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  • Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy, Unità Operativa di Neurologia, Arcispedale S. Maria Nuova, Reggio Emilia, Italy, Institute of Neurology, University “Magna Graecia”, Catanzaro, Italy (literal)
Titolo
  • HNPP Due To A Novel Frameshift Mutation Of The PMP22 Gene (literal)
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