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WT1-related disorders: more than Denys-Drash syndrome.
Lopez-Gonzalez M, Ariceta G. Lopez-Gonzalez M, et al. Pediatr Nephrol. 2024 Sep;39(9):2601-2609. doi: 10.1007/s00467-024-06302-y. Epub 2024 Feb 7. Pediatr Nephrol. 2024. PMID: 38326647 Review.
Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Denys-Drash syndrome (DDS), Frasier syndrome (FS), Meacham syndrome, and WAGR syndrome. DDS is classically defined by the triad o …
Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Den …
Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis.
Inoue S, Kondo A, Inoki Y, Ichikawa Y, Tanaka Y, Ueda C, Kitakado H, Suzuki R, Okada E, Sakakibara N, Horinouchi T, Nozu K. Inoue S, et al. Clin Exp Nephrol. 2024 Nov;28(11):1075-1081. doi: 10.1007/s10157-024-02510-w. Epub 2024 Jun 14. Clin Exp Nephrol. 2024. PMID: 38877226 Free PMC article.
BACKGROUND: Wilms tumor 1 (WT1; NM_024426) causes Denys-Drash syndrome, Frasier syndrome, or isolated focal segmental glomerulosclerosis. Several WT1 intron variants are pathogenic; however, the pathogenicity of some variants remains undefined. ...
BACKGROUND: Wilms tumor 1 (WT1; NM_024426) causes Denys-Drash syndrome, Frasier syndrome, or isolated focal segmental glomerul …
Immunosuppressant-resistant nephrotic syndrome and primary amenorrhea: A case report of adult Frasier syndrome and literature review.
Li C, Lin L, Pu T, Teng J, Shen Z. Li C, et al. Clin Nephrol. 2025 Mar;103(3):232-236. doi: 10.5414/CN111432. Clin Nephrol. 2025. PMID: 39037087 Review.
Gene analysis revealed a splice mutation (1447+1G>A) in IVS9 and chromosomal karyotype was (46, XY), confirming the diagnosis of Frasier syndrome, which was consistent with primary amenorrhea overlooked by local nephrologists. ...
Gene analysis revealed a splice mutation (1447+1G>A) in IVS9 and chromosomal karyotype was (46, XY), confirming the diagnosis of F …
Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.
Kollios K, Karipiadou A, Papagianni M, Traeger-Synodinos J, Kosta K, Savvidou P, Stabouli S, Roilides E. Kollios K, et al. J Pediatr Hematol Oncol. 2022 Nov 1;44(8):471-473. doi: 10.1097/MPH.0000000000002501. Epub 2022 Jun 8. J Pediatr Hematol Oncol. 2022. PMID: 35700406
Frasier syndrome (FS) is a rare condition, caused by splice-site mutations of intron 9 in the Wilms' tumor suppressor gene 1 (WT1 gene). ...
Frasier syndrome (FS) is a rare condition, caused by splice-site mutations of intron 9 in the Wilms' tumor suppressor gene 1 ( …
A review of the genetic background in complicated WT1-related disorders.
Nagano C, Nozu K. Nagano C, et al. Clin Exp Nephrol. 2025 Jan;29(1):1-9. doi: 10.1007/s10157-024-02539-x. Epub 2024 Jul 13. Clin Exp Nephrol. 2025. PMID: 39002031 Free PMC article. Review.
This group of conditions encompasses a wide phenotypic spectrum that includes Denys-Drash syndrome (DDS), Frasier syndrome (FS), Wilms-aniridia-genitourinary-mental retardation syndrome, and isolated manifestations of nephropathy or Wilms tumor. ...
This group of conditions encompasses a wide phenotypic spectrum that includes Denys-Drash syndrome (DDS), Frasier syndrome (FS …
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.
Anderson E, Aldridge M, Turner R, Harraway J, McManus S, Stewart A, Borzi P, Trnka P, Burke J, Coman D. Anderson E, et al. Pediatr Nephrol. 2022 Oct;37(10):2369-2374. doi: 10.1007/s00467-022-05421-8. Epub 2022 Feb 24. Pediatr Nephrol. 2022. PMID: 35211794 Free PMC article. Review.
BACKGROUND: Intronic WT1 mutations are usually causative of Frasier syndrome with focal segmental glomerulosclerosis as the characteristic nephropathy. ...RESULTS: This report describes the kidney manifestations in 3 individuals from 2 unrelated families with Fra …
BACKGROUND: Intronic WT1 mutations are usually causative of Frasier syndrome with focal segmental glomerulosclerosis as the ch …
Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature.
Matsuoka D, Noda S, Kamiya M, Hidaka Y, Shimojo H, Yamada Y, Miyamoto T, Nozu K, Iijima K, Tsukaguchi H. Matsuoka D, et al. BMC Nephrol. 2020 Aug 24;21(1):362. doi: 10.1186/s12882-020-02007-0. BMC Nephrol. 2020. PMID: 32838737 Free PMC article. Review.
Identification of a de novo Wilms tumor 1 splice donor-site mutation in intron 9 (NM_024426.6:c.1447 + 4C > T) and 46,XY-gonadal dysgenesis led to the diagnosis of Frasier syndrome. CONCLUSIONS: Our findings, together with those of others, point to the importance …
Identification of a de novo Wilms tumor 1 splice donor-site mutation in intron 9 (NM_024426.6:c.1447 + 4C > T) and 46,XY-gonadal dysgenes …
A case of Potter sequence with WT1 mutation.
Yoshino M, Shimabukuro W, Takeichi M, Omura J, Yokota C, Yamamoto J, Nakanishi K, Morisada N, Nozu K, Iijima K, Takahashi Y. Yoshino M, et al. CEN Case Rep. 2023 May;12(2):184-188. doi: 10.1007/s13730-022-00742-x. Epub 2022 Oct 13. CEN Case Rep. 2023. PMID: 36227513 Free PMC article.
Wilms tumor 1 (WT1) is the causative gene of Denys-Drash syndrome and Frasier syndrome, and in most cases, kidney failure develops after birth. We report an unusual case of Potter sequence due to fetal nephropathy and kidney failure with a WT1 mutation. ...
Wilms tumor 1 (WT1) is the causative gene of Denys-Drash syndrome and Frasier syndrome, and in most cases, kidney failure deve …
Wilms' tumor gene 1: lessons from the interface between kidney development and cancer.
Torban E, Goodyer P. Torban E, et al. Am J Physiol Renal Physiol. 2024 Jan 1;326(1):F3-F19. doi: 10.1152/ajprenal.00248.2023. Epub 2023 Nov 2. Am J Physiol Renal Physiol. 2024. PMID: 37916284 Free article. Review.
We review the WT1 mutations that account for Denys-Drash syndrome, Frasier syndrome, and WAGR syndrome. Although the WT1 story began with Wilms' tumors, an understanding of the pathways that link aberrant kidney development to malignant transformation still has some …
We review the WT1 mutations that account for Denys-Drash syndrome, Frasier syndrome, and WAGR syndrome. Although the WT1 story …
13 results