Human phenotype caused by biallelic KDM4B frameshift variant

移码突变 生物 遗传学 表型 外显子 胡说 无意义介导的衰变 基因 分子生物学 核糖核酸 RNA剪接
作者
Sanami Takada,Sebastián Silva,Ivonne Zamorano,A. Sánchez Pérez,Chisato Iwabuchi,Noriko Miyake
出处
期刊:Clinical Genetics [Wiley]
卷期号:105 (1): 72-76 被引量:2
标识
DOI:10.1111/cge.14409
摘要

Abstract KDM4B (MIM*609765, NM_015015.3, formerly JMJD2B ) encodes a histone demethylase and regulates gene expression via demethylation, mainly of H3K9 tri‐methylation. Heterozygous KDM4B loss‐of‐function variants cause autosomal dominant intellectual developmental disorder 65 (MIM#619320), which is characterized by global developmental delay, intellectual disability, language and gross motor delays, structural brain anomalies, characteristic facial features, and clinodactyly. Although the majority of reported patients have de novo pathogenic variants, some patients inherit pathogenic variants from affected parents. To our knowledge, only 23 patients with heterozygous KDM4B variants have been reported to date, and there are no reports of patients with biallelic KDM4B pathogenic variants. Herein, we report a female patient with a biallelic KDM4B frameshift variant (NM_015015.3: c.1384_1394delinsGGG, p.(Leu462Glyfs*43)) located at exon 12 of 23 protein‐coding exons, which is thought to be subject to nonsense‐mediated mRNA decay and no protein production. She presented developmental and language delays and a hypotonic and characteristic face. The patient's phenotype was more obvious than that of her mother, who is heterozygous for the same variant. Although declining birth rate (embryonic lethality in male mice) in homozygous knockout mice has been demonstrated, our report suggests that homozygous KDM4B frameshift variants can be viable in humans at least female.
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