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

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-r...

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Autores principales: Hamaguchi, Yo, Aoki, Mikihiro, Watanabe, Satoshi, Mishima, Hiroyuki, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, Sumito
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/PMC6911078/
https://www.ncbi.nlm.nih.gov/pubmed/31871732
http://dx.doi.org/10.1038/s41439-019-0085-3
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author Hamaguchi, Yo
Aoki, Mikihiro
Watanabe, Satoshi
Mishima, Hiroyuki
Yoshiura, Koh-ichiro
Moriuchi, Hiroyuki
Dateki, Sumito
author_facet Hamaguchi, Yo
Aoki, Mikihiro
Watanabe, Satoshi
Mishima, Hiroyuki
Yoshiura, Koh-ichiro
Moriuchi, Hiroyuki
Dateki, Sumito
author_sort Hamaguchi, Yo
collection PubMed
description 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.
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spelling pubmed-69110782019-12-23 KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup) Hamaguchi, Yo Aoki, Mikihiro Watanabe, Satoshi Mishima, Hiroyuki Yoshiura, Koh-ichiro Moriuchi, Hiroyuki Dateki, Sumito Hum Genome Var Data Report 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. Nature Publishing Group UK 2019-12-13 /pmc/articles/PMC6911078/ /pubmed/31871732 http://dx.doi.org/10.1038/s41439-019-0085-3 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
Hamaguchi, Yo
Aoki, Mikihiro
Watanabe, Satoshi
Mishima, Hiroyuki
Yoshiura, Koh-ichiro
Moriuchi, Hiroyuki
Dateki, Sumito
KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
title KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
title_full KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
title_fullStr KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
title_full_unstemmed KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
title_short KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
title_sort kat6b-related disorder in a patient with a novel frameshift variant (c.3925dup)
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6911078/
https://www.ncbi.nlm.nih.gov/pubmed/31871732
http://dx.doi.org/10.1038/s41439-019-0085-3
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