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) [
Clinical utility gene card: for incontinentia pigmenti
Fusco F;Pescatore A;
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) [File in questo prodotto:
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Descrizione: linical utility gene card: for incontinentia pigmenti
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