Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

doi:10.1002/humu.22483

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Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Human mutation - 1 Feb 2014

Conte Matilde Immacolata, Pescatore Alessandra, Paciolla Mariateresa, Esposito Elio, Miano Maria Giuseppina, Lioi Maria Brigida, McAleer Maeve A, Giardino Giuliana, Pignata Claudio, Irvine Alan D, Scheuerle Angela E, Royer Ghislaine, Hadj-Rabia Smail, Bodemer Christine, Bonnefont Jean-Paul, Munnich Arnold, Smahi Asma, Steffann Julie, Fusco Francesca, Ursini Matilde Valeria

Abstract excerpt

Incontinentia pigmenti (IP) is an X-linked-dominant Mendelian disorder caused by mutation in the IKBKG/NEMO gene, encoding for NEMO/IKKgamma, a regulatory protein of nuclear factor kappaB (NF-kB) signaling. In more than 80% of cases, IP is due to recurrent or nonrecurrent deletions causing loss-of-function (LoF) of NEMO/IKKgamma. We review how the local architecture of the IKBKG/NEMO locus with segmental...

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PMID: 24339369
DOI: 10.1002/humu.22483

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Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.PMID 24339369Read ↗

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.Semantic proximity Read ↗

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