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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

作者信息

Harms Frederike L, Dingemans Alexander J M, Hempel Maja, Pfundt Rolph, Bierhals Tatjana, Casar Christian, Müller Christian, Niermeijer Jikke-Mien F, Fischer Jan, Jahn Arne, Hübner Christoph, Majore Silvia, Agolini Emanuele, Novelli Antonio, van der Smagt Jasper, Ernst Robert, van Binsbergen Ellen, Mancini Grazia M S, van Slegtenhorst Marjon, Barakat Tahsin Stefan, Wakeling Emma L, Kamath Arveen, Downie Lilian, Pais Lynn, White Susan M, de Vries Bert B A, Kutsche Kerstin

机构信息

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

出版信息

Genet Med. 2023 Nov;25(11):100964. doi: 10.1016/j.gim.2023.100964. Epub 2023 Sep 19.

DOI:10.1016/j.gim.2023.100964
PMID:37728613
Abstract
摘要

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.新生PHF5A变异与颅面异常、发育迟缓及尿道下裂有关。
Genet Med. 2023 Nov;25(11):100964. doi: 10.1016/j.gim.2023.100964. Epub 2023 Sep 19.
2
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.PHF5A 新生变异与颅面异常、发育迟缓及尿道下裂有关。
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Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America.与尿道下裂相关的颅面畸形。南美洲某医院人群的描述。
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引用本文的文献

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Determination of trunk neural crest cell fate and susceptibility to splicing perturbation by the DLC1-SF3B1-PHF5A splicing complex.DLC1-SF3B1-PHF5A剪接复合体对躯干神经嵴细胞命运的决定作用及对剪接扰动的易感性
Nat Commun. 2025 Jul 21;16(1):6718. doi: 10.1038/s41467-025-62003-6.
2
Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.sf3b4的缺失会导致剪接缺陷和基因失调，从而扰乱颅面发育和生存。
Dis Model Mech. 2025 Mar 1;18(3). doi: 10.1242/dmm.052169. Epub 2025 Mar 24.
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Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide-B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish.
药物抑制剪接体 SF3b 复合物可引起小鼠和斑马鱼颅面部发育缺陷。
Birth Defects Res. 2024 Nov;116(11):e2404. doi: 10.1002/bdr2.2404.