Article
Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.
Molecular genetics & genomic medicine - 1 Dec 2020
Kawai Miki, Kato Takema, Tsutsumi Makiko, Shinkai Yasuko, Inagaki Hidehito, Kurahashi Hiroki
Abstract excerpt
BACKGROUND: Incontinentia pigmenti (IP) is a rare X-linked disorder affecting the skin and other ectodermal tissues that is caused by mutation of the IKBKG/NEMO gene. Previous studies have reported that the overall mutation detection rate in IP is ~75%. We hypothesized that a low-level mosaicism existed in the remaining cases. METHODS: Genomic variations in the IKBKG gene were examined in 30 IP probands and their...
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