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Article

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

Human molecular genetics - 15 Mar 2012

Fusco Francesca, Paciolla Mariateresa, Napolitano Federico, Pescatore Alessandra, D'Addario Irene, Bal Elodie, Lioi Maria Brigida, Smahi Asma, Miano Maria Giuseppina, Ursini Matilde Valeria

Abstract excerpt

IKBKG/NEMO gene mutations cause an X-linked, dominant neuroectodermal disorder named Incontinentia Pigmenti (IP). Located at Xq28, IKBKG/NEMO has a unique genomic organization, as it is part of a segmental duplication or low copy repeat (LCR1-LCR2, >99% identical) containing the gene and its pseudogene copy (IKBKGP). In the opposite direction and outside LCR1, IKBKG/NEMO partially overlaps G6PD, whose mutations...

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PMID: 22121116
DOI: 10.1093/hmg/ddr556

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.PMID 22121116Read ↗

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

Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.Semantic proximity Read ↗

Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report.Semantic proximity Read ↗

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.Semantic proximity Read ↗

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKK? dene deletionSemantic proximity Read ↗

Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.Semantic proximity Read ↗

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP MalesSemantic proximity Read ↗

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.Semantic proximity Read ↗

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.Semantic proximity Read ↗

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.Semantic proximity Read ↗

Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia PigmentiSemantic proximity Read ↗

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiSemantic proximity Read ↗

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