非典型普拉德-威利综合征缺失：对复杂调控和表型变异性的见解
Atypical Prader-Willi Syndrome Deletions: Insights Into the Complex Regulation and Phenotypic Variability.
作者信息
Buecking Jannis, Schaaf Christian P
机构信息
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
出版信息
Mol Genet Genomic Med. 2025 Aug;13(8):e70131. doi: 10.1002/mgg3.70131.
Abstract
This letter discusses two recent reports of Prader–Willi syndrome (PWS) cases with atypical deletions within the 15q11.2 region. The genetic and clinical complexity highlights the need for caution when interpreting individual cases, supports a symptom‐based management approach, and calls for controlled experimental research to elucidate the regulatory landscape of the PWS locus.
摘要
这封信讨论了最近两份关于普拉德-威利综合征（PWS）病例的报告，这些病例在15q11.2区域存在非典型缺失。遗传和临床的复杂性凸显了在解读个别病例时需要谨慎，支持基于症状的管理方法，并呼吁开展对照实验研究以阐明PWS基因座的调控格局。
相似文献
1
Atypical Prader-Willi Syndrome Deletions: Insights Into the Complex Regulation and Phenotypic Variability.非典型普拉德-威利综合征缺失：对复杂调控和表型变异性的见解
Mol Genet Genomic Med. 2025 Aug;13(8):e70131. doi: 10.1002/mgg3.70131.
2
Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes.普拉德-威利综合征和 Schaaf-Yang 综合征小鼠模型中 Magel2 缺失导致的肌肉功能障碍。
Hum Mol Genet. 2016 Sep 1;25(17):3798-3809. doi: 10.1093/hmg/ddw225. Epub 2016 Jul 19.
3
Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the Gene.普拉德-威利综合征和 Schaaf-Yang 综合征：在基因层面相交的神经发育疾病
Diseases. 2016 Jan 13;4(1):2. doi: 10.3390/diseases4010002.
4
A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116.一例普拉德-威利综合征病例，存在包含MAGEL2、NDN和MKRN3但不包括SNRPN和SNORD116的缺失。
Am J Med Genet A. 2025 Apr 15:e64070. doi: 10.1002/ajmg.a.64070.
6
Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.MAGEL2 的截断变异与 Schaaf-Yang 和 Prader-Willi 综合征的病因有关。
Am J Hum Genet. 2024 Jul 11;111(7):1383-1404. doi: 10.1016/j.ajhg.2024.05.023. Epub 2024 Jun 21.
7
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.Schaaf-Yang综合征的表型谱：来自14个家庭的18名新患个体。
Genet Med. 2017 Jan;19(1):45-52. doi: 10.1038/gim.2016.53. Epub 2016 May 19.
8
Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.三名患有 Schaaf-Yang 综合征的患者表现出关节挛缩和内分泌异常。
Am J Med Genet A. 2018 Mar;176(3):707-711. doi: 10.1002/ajmg.a.38606. Epub 2018 Jan 23.
9
Cellular and disease functions of the Prader-Willi Syndrome gene .普拉德-威利综合征基因的细胞及疾病功能
Biochem J. 2017 Jun 16;474(13):2177-2190. doi: 10.1042/BCJ20160616.
10
The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism.Schaaf-Yang 综合征蛋白 MAGEL2 的 N 端结构域可能在 RNA 代谢中发挥作用。
J Biol Chem. 2021 Aug;297(2):100959. doi: 10.1016/j.jbc.2021.100959. Epub 2021 Jul 12.
本文引用的文献
1
A Case of Prader-Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116.一例普拉德-威利综合征病例，存在包含MAGEL2、NDN和MKRN3但不包括SNRPN和SNORD116的缺失。
Am J Med Genet A. 2025 Apr 15:e64070. doi: 10.1002/ajmg.a.64070.
2
Classic Prader-Willi Syndrome Phenotype Caused by an Atypical Deletion in the 15q11 Region Not Involving the SNORD Genes.由15q11区域非SNORD基因相关的非典型缺失导致的经典普拉德-威利综合征表型
Clin Genet. 2025 Apr 8. doi: 10.1111/cge.14750.
3
Identifying key underlying regulatory networks and predicting targets of orphan C/D box SNORD116 snoRNAs in Prader-Willi syndrome.识别普拉德-威利综合征中潜在的关键调控网络并预测孤儿C/D盒SNORD116小核仁RNA的靶标。
Nucleic Acids Res. 2024 Dec 11;52(22):13757-13774. doi: 10.1093/nar/gkae1129.
4
Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.MAGEL2 的截断变异与 Schaaf-Yang 和 Prader-Willi 综合征的病因有关。
Am J Hum Genet. 2024 Jul 11;111(7):1383-1404. doi: 10.1016/j.ajhg.2024.05.023. Epub 2024 Jun 21.
5
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.父系遗传的 15q11.2 微缺失证实了 SNORD116 C/D 框 snoRNA 簇在 Prader-Willi 综合征中的重要作用。
Eur J Hum Genet. 2010 Nov;18(11):1196-201. doi: 10.1038/ejhg.2010.102. Epub 2010 Jun 30.
6
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.小核仁RNA（snoRNA）HBII-85类的缺失与食欲亢进、肥胖和性腺功能减退有关。
Hum Mol Genet. 2009 Sep 1;18(17):3257-65. doi: 10.1093/hmg/ddp263. Epub 2009 Jun 4.
7
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.由父源HBII-85 C/D盒小核仁RNA簇缺陷引起的普拉德-威利表型。
Nat Genet. 2008 Jun;40(6):719-21. doi: 10.1038/ng.158. Epub 2008 May 25.
Zotero 插件