{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T04:54:44Z","timestamp":1781758484535,"version":"3.54.5"},"reference-count":34,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:00:00Z","timestamp":1781740800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>\n                    Incontinentia Pigmenti (IP; OMIM#308300) and syndromic intellectual disability (ID) (MRFACD; OMIM#616789) are two genetically dominant rare diseases. Their phenotypes are characterized by distinctive clinical signs: IP is caused by skin and neuroectodermal abnormalities with highly variable expression, while MRFACD is caused by a broad range of neurologic manifestations, including ID, hypotonia, ophthalmological abnormalities, motor delay, abnormalities in cerebral magnetic resonance, and a remarkable speech delay. The two diseases have genetically different causes: IP is an X-linked disorder caused by mutations in the\n                    <jats:italic>IKBKG\/NEMO<\/jats:italic>\n                    gene, whereas MRFACD is an autosomal dominant disease caused by mutations in the\n                    <jats:italic>MED13L<\/jats:italic>\n                    gene. In this study, we describe the unique case of a female patient with a complex phenotype characterized by neuroectodermal abnormalities typical of IP and by syndromic intellectual disability. The multiple genetic approaches revealed the concurrence of postzygotic mosaicism for the genomic deletion (NEMOdelta4_10) in the\n                    <jats:italic>IKBKG<\/jats:italic>\n                    gene and of a constitutive deleterious variant in the\n                    <jats:italic>MED13L<\/jats:italic>\n                    gene (NM_015335.4: c.1708_1709del). This genetic combination, never previously reported, makes this case particularly interesting from a clinical perspective because it underscores the importance of considering multilocus genomic alterations, including postzygotic mosaicism, as possible contributors to complex clinical presentations.\n                  <\/jats:p>","DOI":"10.3389\/fmed.2026.1819035","type":"journal-article","created":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T04:33:35Z","timestamp":1781757215000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A case of Incontinentia Pigmenti associated with concurrent IKBKG\/NEMO and MED13L mutations"],"prefix":"10.3389","volume":"13","author":[{"given":"Ezia","family":"Spinosa","sequence":"first","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati- Traverso\u201d IGB-CNR","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremie","family":"Rosain","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children","place":["Paris, France"]},{"name":"Imagine Institute, University of Paris Cit\u00e9","place":["Paris, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Picascia","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati- Traverso\u201d IGB-CNR","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Salvia","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati- Traverso\u201d IGB-CNR","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Pescatore","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati- Traverso\u201d IGB-CNR","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine, The University of Campania \u201cLuigi Vanvitelli\u201d","place":["Naples, Italy"]},{"name":"Telethon Institute of Genetics and Medicine (TIGEM)","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Piluso","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine, The University of Campania \u201cLuigi Vanvitelli\u201d","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine, The University of Campania \u201cLuigi Vanvitelli\u201d","place":["Naples, Italy"]},{"name":"Telethon Institute of Genetics and Medicine (TIGEM)","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Piccolo","sequence":"additional","affiliation":[{"name":"Dermatology Unit, University of Campania \u201cLuigi Vanvitelli\u201d","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Diociaiuti","sequence":"additional","affiliation":[{"name":"Dermatology Unit and Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Immacolata","family":"Di Biase","sequence":"additional","affiliation":[{"name":"MeriGen Diagnostic & C. SAS","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"May","family":"El Hachem","sequence":"additional","affiliation":[{"name":"Dermatology Unit and Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS","place":["Rome, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria B.","family":"Lioi","sequence":"additional","affiliation":[{"name":"Department of Basic and Applied Sciences, University of Basilicata","place":["Potenza, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Bastard","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children","place":["Paris, France"]},{"name":"Imagine Institute, University of Paris Cit\u00e9","place":["Paris, France"]},{"name":"Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique-H\u00f4pitaux de Paris (AP-HP)","place":["Paris, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde V.","family":"Ursini","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati- Traverso\u201d IGB-CNR","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Fusco","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati- Traverso\u201d IGB-CNR","place":["Naples, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,18]]},"reference":[{"key":"ref1","volume-title":"Orphanet Report Series. 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