Clinical utility gene card: for incontinentia pigmenti

Authors :: Francesca Fusco
Alessandra Pescatore
Julie Steffann
Jean-Paul Bonnefont
Judite De Oliveira
Maria Brigida Lioi
Matilde Valeria Ursini
Source :: European journal of human genetics 27 (2019): 1894–1900. doi:10.1038/s41431-019-0463-9, info:cnr-pdr/source/autori:Fusco F.; Pescatore A.; Steffann J.; Bonnefont J.-P.; De Oliveira J.; Lioi M.B.; Ursini M.V./titolo:Clinical utility gene card: for incontinentia pigmenti/doi:10.1038%2Fs41431-019-0463-9/rivista:European journal of human genetics/anno:2019/pagina_da:1894/pagina_a:1900/intervallo_pagine:1894–1900/volume:27, Eur J Hum Genet
Publication Year :: 2019
Publisher :: Springer Science and Business Media LLC, 2019.
Abstract: Incontinentia pigmenti (IP) is an X-linked dominant disease, generally lethal in males, caused by variants of the IKBKG/ NEMO gene (NM_001099856.4), which encodes for IKKgamma/NEMO, essential for NF-?B activation [1-3]. Although the classic IP phenotype is almost entirely restricted to females, occasionally males present an IP phenotype, including the typical skin alterations that are hallmarks of the disease. The rare cases of IP males are postzygotic genetic mosaics for the IKBKG/NEMO variant [4, 5] or have a 47, XXY karyotype (Klinefelter syndrome) [