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 - Funding Information:
This study was supported by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (15H04710 and 24390085 to H.K.) and from the Ministry of Health, Welfare and Labor (16ek0109067h0003 to H.K.). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
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 -