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

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KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-12-13 , DOI: 10.1038/s41439-019-0085-3
Yo Hamaguchi _{1,

2} , Mikihiro Aoki ₁ , Satoshi Watanabe ₃ , Hiroyuki Mishima ₂ , Koh-Ichiro Yoshiura ₂ , Hiroyuki Moriuchi ₃ , Sumito Dateki ₃

Affiliation

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.

中文翻译：

患有新型移码变异 (c.3925dup) 的患者患有 KAT6B 相关疾病。

编码赖氨酸乙酰转移酶 6B 的 KAT6B 基因中的杂合致病性变异已在先天性罕见疾病患者中被发现，包括生殖髌骨综合征和 Say-Barber-Biesecker-Young-Simpson 综合征。在此，我们报告了另一位患有 KAT6B 相关疾病的日本患者和 KAT6B 外显子 18 中的新的从头杂合变异 [c.3925dup, p.(Glu1309fs*33)]，提供了进一步的证据，证明外显子 17 和外显子 18 的近端区域与生殖髌骨综合征样表型相关。

更新日期：2019-12-13

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