Details

Autor(en) / Beteiligte

• Murakami, Hiroaki
• Kimura, Yuichi
• Enomoto, Yumi
• Tsurusaki, Yoshinori
• Akahira-Azuma, Moe
• Kuroda, Yukiko
• Tsuji, Megumi
• Goto, Tomohide
• Kurosawa, Kenji

Titel

Discordant phenotype caused by CASK mutation in siblings with NF1

Ist Teil von

• Human genome variation, 2019-04, Vol.6 (1), p.20-20, Article 20

Ort / Verlag

London: Nature Publishing Group UK

Erscheinungsjahr

2019

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.