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Exploring new gene-disease associations in polycystic kidney disease: a case report highlighting the importance of a precise genomic diagnosis.

作者信息

Scholes Gemma, Prawer Yael, Ryan Jessica, Verma Kunal, Jayasinghe Kushani

机构信息

Department of Nephrology, Monash Health, Clayton, VIC, Australia.

Department of Genetics, Monash Health, Clayton, VIC, Australia.

出版信息

J Nephrol. 2025 Mar;38(2):765-769. doi: 10.1007/s40620-024-02113-4. Epub 2024 Oct 9.

DOI:10.1007/s40620-024-02113-4
PMID:39382785
Abstract
摘要

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本文引用的文献

1
NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?NEK8相关肾病：是否存在常染色体显性遗传形式？
Nephron. 2023;147(3-4):229-233. doi: 10.1159/000526841. Epub 2022 Oct 10.
2
Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease.成人常染色体显性多囊肾病患者基因检测的主流化
Can J Kidney Health Dis. 2021 Oct 29;8:20543581211055001. doi: 10.1177/20543581211055001. eCollection 2021.
3
Early clinical management of autosomal recessive polycystic kidney disease.常染色体隐性遗传性多囊肾病的早期临床管理。
Pediatr Nephrol. 2021 Nov;36(11):3561-3570. doi: 10.1007/s00467-021-04970-8. Epub 2021 Feb 17.
4
Polycystic kidney disease.多囊肾病。
Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y.
5
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.新型NEK8突变通过YAP失调导致严重综合征性肾囊性发育不良。
PLoS Genet. 2016 Mar 11;12(3):e1005894. doi: 10.1371/journal.pgen.1005894. eCollection 2016 Mar.
6
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
7
Rare inherited kidney diseases: challenges, opportunities, and perspectives.罕见遗传性肾脏疾病：挑战、机遇与展望。
Lancet. 2014 May 24;383(9931):1844-59. doi: 10.1016/S0140-6736(14)60659-0.
8
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.NEK8 基因突变将多种器官发育不良与 Hippo 信号通路改变和 c-MYC 表达增加联系起来。
Hum Mol Genet. 2013 Jun 1;22(11):2177-85. doi: 10.1093/hmg/ddt070. Epub 2013 Feb 14.