2023•Clinical and Experimental DermatologyRequires access
Variable clinical consequences of mosaicism for c.1167dupC in IKBKG in male and female patients with incontinentia pigmenti and related phenotypes
Roy Luister C Acos, Yi‐Han Chang, Yu‐Chen Lin, Dianne Katherine R. Salazar-Paras, Yui Fujimura, Hajime Nakano, Eijiro Akasaka, Ken Natsuga, Bryan Edgar K. Guevara, John Alexander McGrath, Chao‐Kai Hsu
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Abstract
In the present study, we report a duplication variant found in two families with incontinentia pigmenti, which exhibited a variety of phenotypes in both male and female carriers. Although natural mosaicism through Lyonization, with variably skewed X-inactivation, accounts for the phenotype in females, our study also demonstrates that mosaicism, albeit through a different mechanism, should also be remembered in understanding the phenotypic expression of IKBKG-related disorders in some males.