4.5 Article

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

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BMC PEDIATRICS
卷 22, 期 1, 页码 -

出版社

BMC
DOI: 10.1186/s12887-022-03444-6

关键词

Incontinentia pigmenti; IKBKG; Mosaicism; Paternal inheritance; Case report

资金

  1. Ministry of Education, Culture, Sports, Science, and Technology of Japan [15H04710, 24390085]
  2. Ministry of Health, Welfare and Labor [16ek0109067h0003]

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Incontinentia pigmenti (IP) is a skin disorder caused by mutations of the IKBKG/NEMO gene, which is mostly lethal in males in utero. A rare case of a female infant with an IKBKG gene deletion was reported, and a low-level mosaic deletion was also identified in the father's peripheral blood, indicating a rare mode of father-to-daughter transmission of IP.
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.

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