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BMC Pediatrics
Published in: BMC Pediatrics 1/2022

Open Access 01-12-2022 | Incontinentia Pigmenti | Case report

Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report

Authors: Miki Kawai, Atsuya Sugimoto, Yasunori Ishihara, Takema Kato, Hiroki Kurahashi

Published in: BMC Pediatrics | Issue 1/2022

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Abstract

Background

Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG/NEMO gene. IP is mostly lethal in males in utero, and only very rare male cases with a somatic mosaic mutation or a 47,XXY karyotype have been reported.

Case presentation

We here report a case of an IKBKG gene deletion in a female infant presenting with a few blisters and erythema in her upper arms at birth. MLPA analysis revealed a rare 94 kb deletion in this patient, encompassing the IKBKG gene and IKBKGP pseudogene. PCR analysis indicated the presence of Alu elements at both ends of the deletion, suggesting non-allelic homologous recombination as an underlying mechanism. Notably, a low-level mosaic deletion was identified in her father’s peripheral blood leukocytes by PCR, suggesting a rare father-to-daughter transmission of IP.

Conclusion

In family studies for an apparently sporadic IP case, parental analysis that includes the father is recommended due to the possibility of male mosaicism.
Literature
1.
Orphanet. Prevalence and incidence of rare diseases: Bibliographic data. 2021;1(1).
2.
Fusco F, Fimiani G, Tadini G, Michele D, Ursini MV. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol. 2007;56(2):264–7.CrossRef
3.
Conte M, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, et al. Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat. 2014;35(2):165–77.CrossRef
4.
Aradhya S, Bardaro T, Galgóczy P, Yamagata T, Esposito T, Patlan H, et al. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet. 2001;10(22):2557–67.CrossRef
5.
Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation. Hum Mol Genet. 2004;13(16):1763–73.CrossRef
6.
Fusco F, Paciolla M, Napolitano F, Pescatore A, D’addario I, Bal E, et al. Genomic architecture at the incontinentia pigmenti locus favours de novo pathological alleles through different mechanisms. Hum Mol Genet. 2012;21(6):1260–71.CrossRef
7.
Bardaro T, Falco G, Sparago A, Mercadante V, Molins EG, Tarantino E, et al. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKγ gene deletion. Hum Mutat. 2003;21(1):8–11.CrossRef
8.
Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992;51(6):1229–39.PubMedPubMedCentral
9.
Fusco F, Conte MI, Diociauti A, Bigoni S, Branda MF, Ferlini A, et al. Unusual father-to-daughter transmission of Incontinentia Pigmenti due to mosaicism in IP males. Pediatrics. 2017;140(3):e20162950.CrossRef
Metadata
Title
Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report
Authors
Miki Kawai
Atsuya Sugimoto
Yasunori Ishihara
Takema Kato
Hiroki Kurahashi
Publication date
01-12-2022
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2022
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-022-03444-6

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