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

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 leukocyte

SUBMITTER: Kawai M 

PROVIDER: S-EPMC9241235 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature