Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (Articolo in rivista)

Type
Label
  • Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (Articolo in rivista) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1002/humu.20739 (literal)
Alternative label
  • Francesca Fusco; Alessandra Pescatore; Elodie Bal; Aida Ghoul; Mariateresa Paciolla; Maria Brigida Lioi; Michele D'Urso; Smail Hadj Rabia; Christine Bodemer; Jean Paul; Bonnefont; Arnold Munnich; Maria Giuseppina Miano; Asma Smahi; Matilde Valeria Ursini (2008)
    Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
    in Human mutation
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Francesca Fusco; Alessandra Pescatore; Elodie Bal; Aida Ghoul; Mariateresa Paciolla; Maria Brigida Lioi; Michele D'Urso; Smail Hadj Rabia; Christine Bodemer; Jean Paul; Bonnefont; Arnold Munnich; Maria Giuseppina Miano; Asma Smahi; Matilde Valeria Ursini (literal)
Pagina inizio
  • 595 (literal)
Pagina fine
  • 604 (literal)
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  • http://onlinelibrary.wiley.com/doi/10.1002/humu.20739/abstract (literal)
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  • 29 (literal)
Rivista
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  • 5 (literal)
Note
  • PubMe (literal)
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1. Inst Genet & Biophys Adriano Buzzati Traverso, Naples, Italy 2. Hop Necker Enfants Malad, Dept Genet, Paris, France 3. Hop Necker Enfants Malad, INSERM, U781, Paris, France 4. Univ Basilicata, I-85100 Potenza, Italy (literal)
Titolo
  • Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (literal)
Abstract
  • Mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG), also called nuclear factor-kappaB (NF-kappa B) essential modulator (NEMO), gene are the most common single cause of incontinentia pigmenti (IP) in females and anhydrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males. The IKBKG gene, located in the Xq28 chromosomal region, encodes for the regulatory subunit of the inhibitor of kappaB (IkB) kinase (IKK) complex required for the activation of the NF-kappa B pathway. Therefore, the remarkably heterogeneous and often severe clinical presentation reported in IP is due to the pleiotropic role of this signaling transcription pathway. A recurrent exon 4_10 genomic rearrangement in the IKBKG gene accounts for 60 to 80% of IP-causing mutations. Besides the IKBKG rearrangement found in IP females (which is lethal in males), a total of 69 different small mutations (missense, frameshift, nonsense, and splice-site mutations) have been reported, including 13 novel ones in this work. The updated distribution of all the IR and EDA-ID-causing mutations along the IKBKG gene highlights a secondary hotspot mutation in exon 10, which contains only 11% of the protein. Furthermore, familial inheritance analysis revealed an unexpectedly high incidence of sporadic cases (>65%). The sum of the observations can aid both in determining the molecular basis of IP and EDA-ID allelic diseases, and in genetic counseling in affected families. (literal)
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