Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

Summary: Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical genetic testing in whom long-read sequencing identified causal variants,...

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Main Authors: Monica H. Wojcik, Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson, Linda Golkar, Miranda P.G. Zalusky, Angela L. Miller, Araceli Rodriguez, Joy Goffena, Camille A. Dash, Nikhita Damaraju, Sophia B. Gibson, Sophie H.R. Storz, Zachary B. Anderson, Jonas A. Gustafson, Isabelle Thiffault, Emily G. Farrow, Tomi Pastinen, Jasmine Lin, Jennifer T. Huang, Alan H. Beggs, Pankaj B. Agrawal, David T. Miller, Danny E. Miller
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:HGG Advances
Subjects:
incontinentia pigmenti
IKBKG
long-read sequencing
pseudogene
structural variation
methylation
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000715
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