A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations - Summary - MDSpire

A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations

  • By

  • Ezia Spinosa

  • Jeremie Rosain

  • Stefania Picascia

  • Michele Salvia

  • Alessandra Pescatore

  • Annalaura Torella

  • Giulio Piluso

  • Vincenzo Nigro

  • Vincenzo Piccolo

  • Andrea Diociaiuti

  • Immacolata Di Biase

  • May El Hachem

  • Maria B. Lioi

  • Paul Bastard

  • Matilde V. Ursini

  • Francesca Fusco

  • June 18, 2026

  • 0 min

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Objective:

To describe a unique case of a female patient with a complex phenotype characterized by neuroectodermal abnormalities typical of Incontinentia Pigmenti (IP) and syndromic intellectual disability.

Approach:
    Key Findings:
    • The patient exhibited postzygotic mosaicism for the genomic deletion NEMOdelta4_10 in the IKBKG gene.
    • The patient also carried a de novo deleterious variant in the MED13L gene (c.1708_1709del).
    • This combination of genetic alterations has not been previously reported.
    Interpretation:

    The findings indicate the presence of multilocus genomic alterations, including postzygotic mosaicism, in complex clinical presentations.

    Limitations:
    • The study is based on a single case report, limiting the generalizability of the findings.
    • Further research is needed to understand the implications of the identified genetic variants.
    Conclusion:

    The presence of both IKBKG and MED13L mutations contributes to the complex clinical presentation observed in the patient.

Original Source(s)

A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations

  • by Ezia Spinosa, Jeremie Rosain, Stefania Picascia, Michele Salvia, Alessandra Pescatore, Annalaura Torella, Giulio Piluso, Vincenzo Nigro, Vincenzo Piccolo, Andrea Diociaiuti, Immacolata Di Biase, May El Hachem, Maria B. Lioi, Paul Bastard, Matilde V. Ursini, Francesca Fusco

  • June 18, 2026

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