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A novel mutation in the KLHL17 gene is associated with neurodevelopmental disorders.

作者信息

Ao Meng, Zhang Shunxiang, Ouyang Yun, Li Shucong, Ma Heqian, Guo Meizhen, Dai Xuelin, Xia Qianhui, Zhang Xiaoying

机构信息

The School of Public Health, Guilin Medical University, Guilin, Guangxi 541100, China.

The Guangxi Key Laboratory of Environmental Exposomics and Entire Lifecycle Heath, Guilin, Guangxi 541199, China.

出版信息

Genes Dis. 2025 Jan 10;12(5):101528. doi: 10.1016/j.gendis.2025.101528. eCollection 2025 Sep.

DOI:10.1016/j.gendis.2025.101528
PMID:40520989
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12164030/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/4a422d891d51/figs6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/b36a84a1a82b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/06bd81e8a60f/figs1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/16cfb8aace28/figs2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/c035d177ee6f/figs3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/8c7183fd766d/figs4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/092fd3ece455/figs5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/4a422d891d51/figs6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/b36a84a1a82b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/06bd81e8a60f/figs1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/16cfb8aace28/figs2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/c035d177ee6f/figs3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/8c7183fd766d/figs4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/092fd3ece455/figs5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1883/12164030/4a422d891d51/figs6.jpg

相似文献

1
A novel mutation in the KLHL17 gene is associated with neurodevelopmental disorders.KLHL17基因中的一种新型突变与神经发育障碍有关。
Genes Dis. 2025 Jan 10;12(5):101528. doi: 10.1016/j.gendis.2025.101528. eCollection 2025 Sep.
2
Upregulation of KLHL17 promotes the proliferation and migration of non-small cell lung cancer by activating the Ras/MAPK signaling pathway.KLHL17 的上调通过激活 Ras/MAPK 信号通路促进非小细胞肺癌的增殖和迁移。
Lab Invest. 2022 Dec;102(12):1389-1399. doi: 10.1038/s41374-022-00806-7. Epub 2022 Aug 17.
3
Autism-related KLHL17 and SYNPO act in concert to control activity-dependent dendritic spine enlargement and the spine apparatus.自闭症相关的 KLHL17 和 SYNPO 协同作用控制活性依赖的树突棘扩大和棘器。
PLoS Biol. 2023 Aug 31;21(8):e3002274. doi: 10.1371/journal.pbio.3002274. eCollection 2023 Aug.
4
KLHL17 differentially controls the expression of AMPA- and KA-type glutamate receptors to regulate dendritic spine enlargement.KLHL17 差异调控 AMPA 和 KA 型谷氨酸受体的表达，从而调节树突棘扩大。
J Neurochem. 2024 Sep;168(9):2155-2169. doi: 10.1111/jnc.16148. Epub 2024 Jun 19.
5
KLHL17/Actinfilin, a brain-specific gene associated with infantile spasms and autism, regulates dendritic spine enlargement.KLHL17/肌动蛋白结合蛋白，一种与婴儿痉挛和自闭症相关的脑特异性基因，调节树突棘扩大。
J Biomed Sci. 2020 Dec 1;27(1):103. doi: 10.1186/s12929-020-00696-1.
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KLHL17 as a Prognostic Indicator and Therapeutic Target in Cervical Cancer: A Comprehensive Analysis.
Comb Chem High Throughput Screen. 2025 May 13. doi: 10.2174/0113862073378446250417123724.
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Allelic effects on KLHL17 expression underlie a pancreatic cancer genome-wide association signal at chr1p36.33.等位基因对KLHL17表达的影响是1号染色体p36.33处胰腺癌全基因组关联信号的基础。
Nat Commun. 2025 Apr 30;16(1):4055. doi: 10.1038/s41467-025-59109-2.
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Allelic effects on expression likely mediated by JunB/D underlie a PDAC GWAS signal at chr1p36.33.由JunB/D可能介导的等位基因对表达的影响是1号染色体p36.33处胰腺癌全基因组关联研究信号的基础。
medRxiv. 2024 Sep 16:2024.09.16.24313748. doi: 10.1101/2024.09.16.24313748.
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Identification of KLHL17 as a prognostic marker for prostate cancer based on single-cell sequencing and in vitro/in vivo experiments.基于单细胞测序及体内外实验鉴定KLHL17作为前列腺癌的预后标志物
Discov Oncol. 2024 Oct 4;15(1):524. doi: 10.1007/s12672-024-01406-1.
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A novel nonsense mutation in PPP2R5D is associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree.一个新的 PPP2R5D 无义突变与神经发育障碍有关，并在一个中国家系中表现出不完全外显。
Clin Neurol Neurosurg. 2022 Dec;223:107524. doi: 10.1016/j.clineuro.2022.107524. Epub 2022 Nov 13.

本文引用的文献

1
Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.使用全外显子组测序对225名发育迟缓及/或智力残疾中国儿童进行遗传和表型分析。
BMC Genomics. 2024 Apr 22;25(1):391. doi: 10.1186/s12864-024-10279-1.
2
Upregulation of KLHL17 promotes the proliferation and migration of non-small cell lung cancer by activating the Ras/MAPK signaling pathway.KLHL17 的上调通过激活 Ras/MAPK 信号通路促进非小细胞肺癌的增殖和迁移。
Lab Invest. 2022 Dec;102(12):1389-1399. doi: 10.1038/s41374-022-00806-7. Epub 2022 Aug 17.
3
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
在局灶性脑畸形中分析 PI3K-AKT-MTOR 变异，为诊断治疗提供新的见解。
Brain. 2022 Apr 29;145(3):925-938. doi: 10.1093/brain/awab376.
4
KLHL17/Actinfilin, a brain-specific gene associated with infantile spasms and autism, regulates dendritic spine enlargement.KLHL17/肌动蛋白结合蛋白，一种与婴儿痉挛和自闭症相关的脑特异性基因，调节树突棘扩大。
J Biomed Sci. 2020 Dec 1;27(1):103. doi: 10.1186/s12929-020-00696-1.
5
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.拷贝数变异与婴儿痉挛：提示前脑腹侧发育异常及突触功能通路异常。
Eur J Hum Genet. 2011 Dec;19(12):1238-45. doi: 10.1038/ejhg.2011.121. Epub 2011 Jun 22.