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KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)


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Title: KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
Authors: Hamaguchi, Yo / Aoki, Mikihiro / Watanabe, Satoshi / Mishima, Hiroyuki / Yoshiura, Koh-ichiro / Moriuchi, Hiroyuki / Dateki, Sumito
Issue Date: 13-Dec-2019
Publisher: Springer Nature
Citation: Human Genome Variation, 6(1), art.no.54; 2019
Abstract: Heterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. Herein, we report another Japanese patient with a KAT6B-related disorder and a novel de novo heterozygous variant in exon 18 of KAT6B [c.3925dup, p.(Glu1309fs*33)], providing further evidence that truncating variants in exon 17 and in the proximal region of exon 18 are associated with genitopatellar syndrome-like phenotypes.
URI: http://hdl.handle.net/10069/39612
DOI: 10.1038/s41439-019-0085-3
Rights: © 2019, The Author(s). This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any mediumor 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/.
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/39612

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