Article
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Human mutation - 1 Dec 2022
Douben Hannie C W, Nellist Mark, van Unen Leontine, Elfferich Peter, Kasteleijn Esmee, Hoogeveen-Westerveld Marianne, Louwen Jesse, van Veghel-Plandsoen Monique, de Valk Walter, Saris Jasper J, Hendriks Femke, Korpershoek Esther, Hoefsloot Lies H, van Vliet Margreethe, van Bever Yolande, van de Laar Ingrid, Aten Emmelien, Lachmeijer Augusta M A, Taal Walter, van den Bersselaar Lisa, Schuurmans Juliette, Oostenbrink Rianne, van Minkelen Rick, van Ierland Yvette, van Ham Tjakko J
Abstract excerpt
Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA-seq) on RNA obtained from cultured skin fibroblasts. In each case, routine...
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