Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti,Molecular Genetics & Genomic Medicine

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Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-10-21 , DOI: 10.1002/mgg3.1531
Miki Kawai _{1,

2} , Takema Kato ₁ , Makiko Tsutsumi ₁ , Yasuko Shinkai ₁ , Hidehito Inagaki ₁ , Hiroki Kurahashi _{1,

2}

Affiliation

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.

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