Discordant phenotype caused by CASK mutation in siblings with NF1.
Hiroaki MurakamiYuichi KimuraYumi EnomotoYoshinori TsurusakiMoe Akahira-AzumaYukiko KurodaMegumi TsujiTomohide GotoKenji KurosawaPublished in: Human genome variation (2019)
With the advent of next-generation sequencing (NGS), a blended phenotype has been shown to be caused by multilocus molecular diagnosis. Here, we present siblings of neurofibromatosis type 1 (NF1) with discordant phenotypes. Further genetic investigation revealed that the younger sister had trisomy 8 mosaicism with a low ratio and a known pathogenic mutation in the CASK gene. This is the first report of a blended phenotype caused by NF1, CASK disorder, and trisomy 8 mosaicism.