Published in

Springer Nature [academic journals on nature.com], Human Genome Variation, 1(6), 2019

DOI: 10.1038/s41439-019-0051-0

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Discordant phenotype caused by CASK mutation in siblings with NF1

Journal article published in 2019 by Hiroaki Murakami, Yuichi Kimura ORCID, Yumi Enomoto, Yoshinori Tsurusaki ORCID, Moe Akahira-Azuma, Yukiko Kuroda, Megumi Tsuji, Tomohide Goto, Kenji Kurosawa ORCID
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

AbstractWith 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.