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1
Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.与一种新型6号外显子基因突变相关的WT1相关综合征的非典型临床表现。
BMJ Case Rep. 2013 May 27;2013:bcr2013009543. doi: 10.1136/bcr-2013-009543.
2
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.患有或未患有威尔姆斯瘤的弗雷泽综合征患者存在影响WT1基因剪接的相同突变。
Hum Mutat. 1999;13(2):146-53. doi: 10.1002/(SICI)1098-1004(1999)13:2<146::AID-HUMU7>3.0.CO;2-I.
3
Genetic analysis of two female patients with incomplete Denys-Drash syndrome.
Endocr J. 2000 Dec;47(6):683-7. doi: 10.1507/endocrj.47.683.
4
Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1.迪尼-德拉斯综合征点突变对肾母细胞瘤抑制蛋白WT1的DNA结合活性的影响。
Biochemistry. 1996 Sep 17;35(37):12070-6. doi: 10.1021/bi960758o.
5
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.威尔姆斯肿瘤抑制基因的种系突变与迪尼-德拉斯综合征患者泌尿生殖系统发育异常有关。
Cell. 1991 Oct 18;67(2):437-47. doi: 10.1016/0092-8674(91)90194-4.
6
A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome.在无泌尿生殖系统异常的散发性肾母细胞瘤中，WT1基因发现的一个点突变与Denys-Drash综合征中最常见的点突变相同。
FEBS Lett. 1993 Feb 8;317(1-2):39-43. doi: 10.1016/0014-5793(93)81487-k.
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WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin.迪尼-德拉斯综合征患者的WT1突变：外显子8中的一种新突变及父系等位基因起源
Hum Genet. 1994 Feb;93(2):115-20. doi: 10.1007/BF00210593.
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Inherited WT1 mutation in Denys-Drash syndrome.迪尼-德拉斯综合征中的遗传性WT1突变。
Cancer Res. 1992 Nov 1;52(21):6125-8.
9
Novel familial WT1 read-through mutation associated with Wilms tumor and slow progressive nephropathy.与肾母细胞瘤和缓慢进展性肾病相关的新型家族性WT1通读突变
Am J Kidney Dis. 2005 Jun;45(6):1100-4. doi: 10.1053/j.ajkd.2005.03.013.
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A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome.一个新的 WT1 杂合性无义突变（p.K248X）导致一个 46,XY 患有 Denys-Drash 综合征的患者出现轻度和轻微进行性肾病。
Pediatr Nephrol. 2011 Aug;26(8):1311-5. doi: 10.1007/s00467-011-1847-4. Epub 2011 May 11.

引用本文的文献

1
New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome: A CARE-compliant case report.WT1 基因突变导致男孩出现不完全型 Denys-Drash 综合征：一项符合 CARE 原则的病例报告。
Medicine (Baltimore). 2021 May 14;100(19):e25864. doi: 10.1097/MD.0000000000025864.

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1
A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.一个三代家族中渐进性孤立性局灶节段性肾小球硬化症的 WT1 基因突变。
Clin J Am Soc Nephrol. 2010 Apr;5(4):698-702. doi: 10.2215/CJN.05670809. Epub 2010 Feb 11.
2
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.病例报告：一名患有迪尼斯-德拉斯综合征的患者出现WT1基因外显子6截断突变及生殖器模糊不清的情况。
Curr Opin Pediatr. 2008 Feb;20(1):103-6. doi: 10.1097/MOP.0b013e3282f357eb.
3
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.两例伴有WT1突变的孤立性弥漫性系膜硬化症。
J Korean Med Sci. 2006 Feb;21(1):160-4. doi: 10.3346/jkms.2006.21.1.160.
4
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.威尔姆斯瘤1基因的突变会导致孤立性类固醇抵抗性肾病综合征，且这些突变发生在第8和第9外显子中。
Pediatr Res. 2006 Feb;59(2):325-31. doi: 10.1203/01.pdr.0000196717.94518.f0.
5
Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population.威尔姆斯瘤基因的变异与非裔美国人中的局灶节段性肾小球硬化相关。
Physiol Genomics. 2005 Apr 14;21(2):212-21. doi: 10.1152/physiolgenomics.00201.2004. Epub 2005 Feb 1.
6
Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene.对两名WT1基因发生错义突变的儿科患者进行预防性双侧肾切除术。
Nephrol Dial Transplant. 2004 Jan;19(1):223-6. doi: 10.1093/ndt/gfg473.
7
GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.单卵双胞胎中与单纯性腺发育不全相关的性腺母细胞瘤
J Pediatr. 1964 May;64:740-5. doi: 10.1016/s0022-3476(64)80622-3.
8
A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7.一例第7外显子存在WT1突变的Denys-Drash综合征尸检病例。
J Med Genet. 2002 Aug;39(8):e48. doi: 10.1136/jmg.39.8.e48.
9
WT1, renal development, and glomerulopathies.
Adv Nephrol Necker Hosp. 1999;29:299-315.
10
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.母胎传播的WT1剪接位点突变是导致不同肾小球疾病的原因。
J Am Soc Nephrol. 1999 Oct;10(10):2219-23. doi: 10.1681/ASN.V10102219.

与一种新型6号外显子基因突变相关的WT1相关综合征的非典型临床表现。

Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.

作者信息

Dattolo Pietro, Allinovi Marco, Iatropoulos Paraskevas, Michelassi Stefano

机构信息

Nephrology and Dialysis Unit, S M Annunziata Hospital, Firenze, Italy.

出版信息

BMJ Case Rep. 2013 May 27;2013:bcr2013009543. doi: 10.1136/bcr-2013-009543.

DOI:10.1136/bcr-2013-009543
PMID:23715837
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3669930/
Abstract

Wilms' tumour suppressor gene-1 (WT1) plays a critical role in kidney development and function. Several WT1 mutations can occur in exons 7, 8 and 9 and they have been associated with Denys-Drash syndrome. WT1 mutations of intron 9 have been reported too and associated with Frasier syndrome. However, overlapping and incomplete forms of both the syndromes have been described. We report a novel sequence variant (c.1012A>T) of the WT1 gene in exon 6 (p.R338X) in a 18-year-old girl with a history of Wilms' tumour, minor gonadal changes and relatively late-onset nephropathy. WT1-related nephropathies should be suspected in every patient with proteinuria not associated to immunological changes when a congenital neoplasia or minor gonadal anomalies are present.

摘要

威尔姆斯肿瘤抑制基因1（WT1）在肾脏发育和功能中起关键作用。外显子7、8和9可发生多种WT1突变，这些突变与迪尼-德拉斯综合征相关。也有报道称内含子9的WT1突变与弗雷泽综合征相关。然而，两种综合征都有重叠和不完全的形式。我们报告了一名18岁女孩的WT1基因外显子6（p.R338X）的一种新型序列变异（c.1012A>T），该女孩有威尔姆斯肿瘤病史、轻微性腺变化和相对晚发的肾病。当存在先天性肿瘤或轻微性腺异常时，对于每一位蛋白尿与免疫变化无关的患者，都应怀疑患有WT1相关肾病。