TY - JOUR
T1 - Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism
T2 - a case report
AU - Kawai, Miki
AU - Sugimoto, Atsuya
AU - Ishihara, Yasunori
AU - Kato, Takema
AU - Kurahashi, Hiroki
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - 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.
AB - 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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U2 - 10.1186/s12887-022-03444-6
DO - 10.1186/s12887-022-03444-6
M3 - Article
C2 - 35768795
AN - SCOPUS:85133124597
SN - 1471-2431
VL - 22
JO - BMC Pediatrics
JF - BMC Pediatrics
IS - 1
M1 - 378
ER -