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

Yo Hamaguchi; Mikihiro Aoki; Satoshi Watanabe; Hiroyuki Mishima; Koh-Ichiro Yoshiura; Hiroyuki Moriuchi; Sumito Dateki

doi:10.1038/s41439-019-0085-3

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

Hum Genome Var. 2019 Dec 13:6:54. doi: 10.1038/s41439-019-0085-3. eCollection 2019.

Authors

Yo Hamaguchi^{1

2}, Mikihiro Aoki¹, Satoshi Watanabe³, Hiroyuki Mishima², Koh-Ichiro Yoshiura², Hiroyuki Moriuchi³, Sumito Dateki³

Affiliations

¹ 1Department of Pediatrics, National Hospital Organization Nagasaki Medical Center, Omura, Japan.
² 2Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
³ 3Departments of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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.

Keywords: Neurodevelopmental disorders; Next-generation sequencing.