Discordant phenotype caused by CASK mutation in siblings with NF1

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...

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Autores principales: Murakami, Hiroaki, Kimura, Yuichi, Enomoto, Yumi, Tsurusaki, Yoshinori, Akahira-Azuma, Moe, Kuroda, Yukiko, Tsuji, Megumi, Goto, Tomohide, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486584/
https://www.ncbi.nlm.nih.gov/pubmed/31044082
http://dx.doi.org/10.1038/s41439-019-0051-0
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author Murakami, Hiroaki
Kimura, Yuichi
Enomoto, Yumi
Tsurusaki, Yoshinori
Akahira-Azuma, Moe
Kuroda, Yukiko
Tsuji, Megumi
Goto, Tomohide
Kurosawa, Kenji
author_facet Murakami, Hiroaki
Kimura, Yuichi
Enomoto, Yumi
Tsurusaki, Yoshinori
Akahira-Azuma, Moe
Kuroda, Yukiko
Tsuji, Megumi
Goto, Tomohide
Kurosawa, Kenji
author_sort Murakami, Hiroaki
collection PubMed
description 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.
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spelling pubmed-64865842019-05-01 Discordant phenotype caused by CASK mutation in siblings with NF1 Murakami, Hiroaki Kimura, Yuichi Enomoto, Yumi Tsurusaki, Yoshinori Akahira-Azuma, Moe Kuroda, Yukiko Tsuji, Megumi Goto, Tomohide Kurosawa, Kenji Hum Genome Var Data Report 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. Nature Publishing Group UK 2019-04-26 /pmc/articles/PMC6486584/ /pubmed/31044082 http://dx.doi.org/10.1038/s41439-019-0051-0 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Murakami, Hiroaki
Kimura, Yuichi
Enomoto, Yumi
Tsurusaki, Yoshinori
Akahira-Azuma, Moe
Kuroda, Yukiko
Tsuji, Megumi
Goto, Tomohide
Kurosawa, Kenji
Discordant phenotype caused by CASK mutation in siblings with NF1
title Discordant phenotype caused by CASK mutation in siblings with NF1
title_full Discordant phenotype caused by CASK mutation in siblings with NF1
title_fullStr Discordant phenotype caused by CASK mutation in siblings with NF1
title_full_unstemmed Discordant phenotype caused by CASK mutation in siblings with NF1
title_short Discordant phenotype caused by CASK mutation in siblings with NF1
title_sort discordant phenotype caused by cask mutation in siblings with nf1
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486584/
https://www.ncbi.nlm.nih.gov/pubmed/31044082
http://dx.doi.org/10.1038/s41439-019-0051-0
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