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A novel pathogenic variant in ZNF462 gene associated with Weiss-Kruszka syndrome and systemic lupus erythematosus.

作者信息

Constantinou Maria, Lampi Marios, Parperis Konstantinos, Neocleous Vassos, Fanis Pavlos, Phylactou Leonidas, Psarelis Savvas

机构信息

University of Cyprus Medical School, Shacolas Educational Centre for Clinical Medicine, Nicosia, Cyprus.

Division of Rheumatology, Department of Internal Medicine, University of Cyprus Medical School, Medical School, Nicosia, Cyprus.

出版信息

Rheumatology (Oxford). 2023 Aug 1;62(8):e249-e250. doi: 10.1093/rheumatology/kead035.

DOI:10.1093/rheumatology/kead035
PMID:36688693
Abstract
摘要

相似文献

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A novel pathogenic variant in ZNF462 gene associated with Weiss-Kruszka syndrome and systemic lupus erythematosus.与魏斯-克鲁什卡综合征和系统性红斑狼疮相关的ZNF462基因中的一种新型致病变异。
Rheumatology (Oxford). 2023 Aug 1;62(8):e249-e250. doi: 10.1093/rheumatology/kead035.
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Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review.Weiss-Kruszka 综合征表型谱：ZNF462 变异所致三例新病例及文献复习。
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A novel mutation in the gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.基因 c.3306dup;p.(Gln1103Thrfs*10) 中的一个新突变与 Weiss-Kruszka 综合征相关。病例报告。
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Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.一名患有魏斯-克鲁什卡综合征且9q31.2存在新发缺失的患者的卡尔曼综合征。
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ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.在一名患有综合征性智力障碍和自闭症谱系障碍的患者中，ZNF462和KLF12因新发易位而被破坏。
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引用本文的文献

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First Report of a Novel Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations.与魏斯-克鲁什卡综合征和先天性膈疝相关的新型变异的首次报告：对潜在其他畸形的见解
Mol Syndromol. 2025 May 2:1-6. doi: 10.1159/000546167.
2
Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss-Kruszka syndrome.分析两例 Weiss-Kruszka 综合征家系的临床表型和遗传变异。
BMC Med Genomics. 2024 Nov 5;17(1):261. doi: 10.1186/s12920-024-02035-x.