denys drash syndrome

Summary

Summary: A disorder of sex development characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.

Top Publications

  1. Motoyama O, Arai K, Kawamura T, Aikawa A, Ohara T, Iitaka K, et al. Clinical course of congenital nephrotic syndrome and Denys-Drash syndrome in Japan. Pediatr Int. 2005;47:607-11 pubmed
    ..Growth and development after renal transplantation were relatively good. Thrombotic episodes or severe infection in CNS patients was difficult to manage and complications resulting from DDS affected the quality of life. ..
  2. Millar A, Cox S, Davidson A. Management of bilateral Wilms tumours. Pediatr Surg Int. 2017;33:737-745 pubmed publisher
    ..Patient selection, appropriate pre- and post-operative chemotherapy and skilled surgical techniques all contribute to excellent outcomes where these are achievable. ..
  3. Schumacher V, Jeruschke S, Eitner F, Becker J, Pitschke G, Ince Y, et al. Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome. J Am Soc Nephrol. 2007;18:719-29 pubmed
    ..The alteration in VEGF-A expression presented here may provide a mechanistic insight into the pathogenesis of DDS. ..
  4. Millar A, Cox S, Davidson A. Management of bilateral Wilms tumours. Pediatr Surg Int. 2017;33:461-469 pubmed publisher
    ..Patient selection, appropriate pre- and post-operative chemotherapy and skilled surgical techniques all contribute to excellent outcomes where these are achievable. ..
  5. Heathcott R, Morison I, Gubler M, Corbett R, Reeve A. A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. Hum Mutat. 2002;19:462 pubmed
    ..This patient extends the range and variation of phenotypes that may arise from a specific germline mutation in WT1. ..
  6. Morrison A, Viney R, Saleem M, Ladomery M. New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes. Am J Physiol Renal Physiol. 2008;295:F12-7 pubmed publisher
    ..Recent advances including the development of transgenic mouse models and conditionally immortalized podocyte cell lines are beginning to shed light on WT1's crucial role in podocyte function. ..
  7. Miller Hodges E. Clinical Aspects of WT1 and the Kidney. Methods Mol Biol. 2016;1467:15-21 pubmed publisher
    ..This vast spectrum of WT1-related disease typifies the varied and complex activity of WT1 in development, disease, and tissue maintenance. ..
  8. Takamiya K, Kostourou V, Adams S, Jadeja S, Chalepakis G, Scambler P, et al. A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat Genet. 2004;36:172-7 pubmed
    ..Our data indicate that GRIP1 is required for normal cell-matrix interactions during early embryonic development and that inactivation of Grip1 causes Fraser syndrome-like defects in mice. ..
  9. Schumacher V, Thumfart J, Drechsler M, Essayie M, Royer Pokora B, Querfeld U, et al. A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy. Nephrol Dial Transplant. 2006;21:518-21 pubmed

More Information

Publications83

  1. Perez de Nanclares G, Castano L, Bilbao J, Vallo A, Rica I, Vela A, et al. Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. J Pediatr Endocrinol Metab. 2002;15:1047-50 pubmed
    ..During surgery for streak gonads extirpation, a microscopic gonadoblastoma was found, a typical complication of Frasier syndrome. ..
  2. Alge J, Wenderfer S, Hicks J, Bekheirnia M, Schady D, Kain J, et al. Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report. BMC Nephrol. 2017;18:243 pubmed publisher
    ..This unique case highlights HUS as a rare but important manifestation of WT1 mutation and provides new insight into the genetics underlying this association. ..
  3. Daoud H, Luco S, Li R, Bareke E, Beaulieu C, Jarinova O, et al. Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. CMAJ. 2016;188:E254-60 pubmed publisher
    ..This pilot study highlighted the potential of next-generation sequencing to deliver molecular diagnoses rapidly with a high success rate. With broader use, this approach has the potential to alter health care delivery in the NICU. ..
  4. Yamamoto K, Santo Y, Satomura K. [A case of Denys-Drash syndrome with prophylactic bilateral nephrectomy]. Nihon Jinzo Gakkai Shi. 2003;45:42-6 pubmed
    ..Since Denys-Drash syndrome is frequently associated with Wilms' tumor, renal biopsy and gene analysis should be performed on male patients with gonadal anomaly, such as hypospadias and/or undescended testes, and proteinuria. ..
  5. Guaragna M, Ribeiro de Andrade J, de Freitas Carli B, Belangero V, Maciel Guerra A, Guerra Júnior G, et al. WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome. Sex Dev. 2017;11:34-39 pubmed publisher
    ..Heterozygous mutations result in WT1 haploinsufficiency as they impair protein production. They are associated with a milder DDS phenotype as observed in the patients studied here. ..
  6. Aucella F, Bisceglia L, De Bonis P, Gigante M, Caridi G, Barbano G, et al. WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. Pediatr Nephrol. 2006;21:1393-8 pubmed
    ..WT1 hot spot mutation analysis should be routinely done in children with SRNS; if the molecular screening anticipates any further therapeutic approach it may modify the long term therapeutic strategy. ..
  7. Stevens M, Oltean S. Modulation of VEGF-A Alternative Splicing as a Novel Treatment in Chronic Kidney Disease. Genes (Basel). 2018;9: pubmed publisher
    ..This review highlights the importance of further investigation into the novel area of VEGF-A splicing in chronic kidney disease pathogenesis and how future studies may allow for the development of splicing-modifying therapeutic drugs. ..
  8. Karabulut H, Sayin B, Bokesoy I. 46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. Genet Couns. 2004;15:489-91 pubmed
  9. Hashimoto H, Zhang X, Zheng Y, Wilson G, Cheng X. Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications. Nucleic Acids Res. 2016;44:10165-10176 pubmed
    ..This gain, we speculate, might derive from the ability of the mutant proteins to sequester WT1 into unproductive oligomers, or to erroneously bind to variant target sequences. ..
  10. Maruniak Chudek I, Niemir Z, Swietlinski J. [The genetic basis of childhood nephrotic syndrome]. Postepy Hig Med Dosw (Online). 2004;58:405-15 pubmed
    ..g. Finnish-type nephrotic, Denys-Drash and Frasier's syndromes, as well as sporadic focal-segmental glomerulosclerosis. A change in the routine policy used in evaluating the causes of childhood nephrotic syndrome is discussed. ..
  11. Orloff M, Iyengar S, Winkler C, Goddard K, Dart R, Ahuja T, et al. Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population. Physiol Genomics. 2005;21:212-21 pubmed
    ..Furthermore, HIV-1 infection status interacts with genetic variations in both genes to influence this phenotype. We speculate that nephropathy liability alleles in WT1 pathway genes cause podocyte dysfunction and glomerular scarring. ..
  12. Moktefi A, Zhang S, Vachin P, Ory V, Henique C, Audard V, et al. Repression of CMIP transcription by WT1 is relevant to podocyte health. Kidney Int. 2016;90:1298-1311 pubmed publisher
    ..Thus, WT1 is a major repressor of the CMIP gene in physiological situations, while conditional deletion of CMIP in the developing kidney did not affect the development of mature glomeruli. ..
  13. Miles C, Slight J, Spraggon L, O Sullivan M, Patek C, Hastie N. Mice lacking the 68-amino-acid, mammal-specific N-terminal extension of WT1 develop normally and are fertile. Mol Cell Biol. 2003;23:2608-13 pubmed
    ..Homozygous mutant mice show a specific absence of the CUG-initiated WT1 isoforms yet develop normally to adulthood and are fertile. Detailed histological analysis revealed normal development of the genitourinary system...
  14. Ismaili K, Pawtowski A, Boyer O, Wissing K, Janssen F, Hall M. Genetic forms of nephrotic syndrome: a single-center experience in Brussels. Pediatr Nephrol. 2009;24:287-94 pubmed publisher
    ..Genetic forms of nephrotic syndrome comprise a heterogeneous group of genetic mutations. The progression toward end-stage renal failure is the rule but is highly variable between patients...
  15. Patek C, Saunders P, Miles C, Berry R, Hastie N, Sharpe R, et al. Gonadal effects of a mouse Denys-Drash syndrome mutation. Transgenic Res. 2005;14:691-702 pubmed
  16. Viney R, Morrison A, van den Heuvel L, Ni L, Mathieson P, Saleem M, et al. A proteomic investigation of glomerular podocytes from a Denys-Drash syndrome patient with a mutation in the Wilms tumour suppressor gene WT1. Proteomics. 2007;7:804-15 pubmed
    ..We conclude that one of WT1 functions in podocytes is to regulate the expression of key components and regulators of the cytoskeleton...
  17. Cho H, Lee B, Kang C, Kim W, Ha I, Cheong H, et al. Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. Pediatr Nephrol. 2006;21:1909-12 pubmed
    ..In addition, we suggest that WT1 abnormalities should be suspected in patients with chronic renal failure who develop hydrothorax after peritoneal dialysis, especially in those with genitourinary abnormalities...
  18. Dahan K, Kamal M, Noel L, Jeanpierre C, Gubler M, Brousse N, et al. Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. Am J Kidney Dis. 2007;49:793-800 pubmed
    ..In patients with DDS, small glomeruli were observed...
  19. Ito S, Hataya H, Ikeda M, Takata A, Kikuchi H, Hata J, et al. Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study. Am J Kidney Dis. 2003;41:1110-5 pubmed
    ..Hereditary nephritis-like glomerular basement membrane findings in FS suggest that one of the important functions of podocytes is to form and maintain the glomerular basement membrane...
  20. Pan K, Qian X, Li R. [Drash syndrome in a case]. Zhonghua Er Ke Za Zhi. 2003;41:674 pubmed
  21. Breslow N, Collins A, Ritchey M, Grigoriev Y, Peterson S, Green D. End stage renal disease in patients with Wilms tumor: results from the National Wilms Tumor Study Group and the United States Renal Data System. J Urol. 2005;174:1972-5 pubmed
  22. Wang N, Song H, Schanen N, Litman N, Frasier S. Frasier syndrome comes full circle: genetic studies performed in an original patient. J Pediatr. 2005;146:843-4 pubmed
    ..In this report, we identify a classic mutation in the Wilms' tumor 1 gene in one of the original cases of Frasier syndrome reported in this Journal in 1964...
  23. Nso Roca A, Peña Carrión A, Benito Gutiérrez M, Garcia Meseguer C, Garcia Pose A, Navarro M. Evolutive study of children with diffuse mesangial sclerosis. Pediatr Nephrol. 2009;24:1013-9 pubmed publisher
    ..Karyotype and WT1 gene analysis should be performed because of the predisposition of patients to develop different types of tumors. This nephropathy has a poor prognosis, but the survival rate has improved in the last decade...
  24. Yang A, Chen J, Chen B. The dysregulated glomerular cell growth in Denys-Drash syndrome. Virchows Arch. 2004;445:305-14 pubmed
    ..This novel concept of DDS glomerulopathy implies complex molecular mechanisms involved in glomerular injury...
  25. Lim H, Hughes I, Hawkins J. Clinical and molecular evidence for the role of androgens and WT1 in testis descent. Mol Cell Endocrinol. 2001;185:43-50 pubmed
    ..These findings indicate that the relationship between testis descent and genital abnormalities is a multi-factorial process with greater complexity than previously proposed...
  26. Kucinskas L, Rudaitis S, Pundziene B, Just W. Denys-Drash syndrome. Medicina (Kaunas). 2005;41:132-4 pubmed
    ..The patient has the mutation p.R394W in the WT1 gene and clinical symptoms of Denys-Drash syndrome...
  27. Kanemoto K, Ishikura K, Ariyasu D, Hamasaki Y, Hataya H, Hasegawa Y, et al. WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis. Pediatr Nephrol. 2007;22:454-8 pubmed
    ..The possibility that the position of the WT1 mutation may influence the course of the nephropathy should be evaluated in a larger patient cohort...
  28. Cash J, Korchnak A, Gorman J, Tandon Y, Fraizer G. VEGF transcription and mRNA stability are altered by WT1 not DDS(R384W) expression in LNCaP cells. Oncol Rep. 2007;17:1413-9 pubmed
    ..These studies of VEGF regulation by WT1 and dysregulation by DDS(R384W) suggest an important role for WT1 in both normal and tumor-related angiogenesis...
  29. Melo K, Martin R, Costa E, Carvalho F, Jorge A, Arnhold I, et al. An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. J Clin Endocrinol Metab. 2002;87:2500-5 pubmed
  30. Joki Erkkilä M, Karikoski R, Rantala I, Lenko H, Visakorpi T, Heinonen P. Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. J Pediatr Adolesc Gynecol. 2002;15:145-9 pubmed
    ..To study immunohistochemical analysis of gonadoblastoma and dysgerminoma. To analyze the possibility of androgen receptor mutation in this rare syndrome...
  31. Zderic S. Renal and adrenal tumors in children. Urol Clin North Am. 2004;31:607-17, xi pubmed
    ..The National Wilms' Tumor Study has conducted four long-term studies addressing how adjunctive therapy may be tailored optimally to maximize survival and minimize the exposure to chemotherapy and radiation therapy...
  32. Lin H, Lin S, Wen M, Tseng C, Fu L, Chi C. Denys-Drash syndrome. J Formos Med Assoc. 2004;103:71-4 pubmed
    ..After prenatal confirmation of normal WT1 gene in the family's next child, they had a healthy baby 14 months after the patient's death...
  33. Patek C, Fleming S, Miles C, Bellamy C, Ladomery M, Spraggon L, et al. Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. Hum Mol Genet. 2003;12:2379-94 pubmed
  34. Vrontou S, Petrou P, Meyer B, Galanopoulos V, Imai K, Yanagi M, et al. Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat Genet. 2003;34:209-14 pubmed
    ..In sum, our data suggest that perturbations in the composition of the extracellular space underlying epithelia could account for the onset of the blebbed phenotype in mouse and Fraser syndrome manifestation in human...
  35. Rousseau T, Laurent N, Thauvin Robinet C, Lionnais S, Durand C, Faivre L, et al. Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome. Prenat Diagn. 2002;22:692-6 pubmed
    ..Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome...
  36. Bilińska W, Rogowska Kalisz A, Puczko Nogal B, Nowicki M. [Congenital nephrotic syndrome]. Med Wieku Rozwoj. 2002;6:89-98 pubmed
    ..On the basis of this syndrome the clinical course, diagnosis and complex treatment strategy are described. A well-documented case of Denys-Drash syndrome - a rare type of congenital nephrotic syndrome is also presented...
  37. Gwin K, Cajaiba M, Caminoa Lizarralde A, Picazo M, Nistal M, Reyes Mugica M. Expanding the clinical spectrum of Frasier syndrome. Pediatr Dev Pathol. 2008;11:122-7 pubmed
  38. Saylam K, Simon P. WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. Eur J Obstet Gynecol Reprod Biol. 2003;110:111-3 pubmed
    ..Genetic analysis revealed a Wilms' tumour (WT1) gene mutation characteristic of the Frasier syndrome. Dysgenetic ovaries were removed laparoscopically due to the risk of gonadal cancer...
  39. McGregor L, Makela V, Darling S, Vrontou S, Chalepakis G, Roberts C, et al. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet. 2003;34:203-8 pubmed
    ..Thus, the bl mouse is a model for Fraser syndrome in humans, a disorder caused by disrupted epithelial integrity in utero...
  40. Sasaki N. [Denys-Drash syndrome (DDS)]. Nihon Rinsho. 2006;Suppl 2:497-8 pubmed
  41. Ammari A, Fung D. Case report: Denys- Drash syndrome. Eur Arch Paediatr Dent. 2007;8:219-23 pubmed
  42. Hossain A, Saunders G. Role of Wilms tumor 1 (WT1) in the transcriptional regulation of the Mullerian-inhibiting substance promoter. Biol Reprod. 2003;69:1808-14 pubmed
    ..The WT1 is an essential factor for activation of the Mis promoter; therefore, the persistence of the mullerian duct in patients with Denys-Drash syndrome may result from deregulation of the MIS gene...
  43. Niaudet P, Gubler M. WT1 and glomerular diseases. Pediatr Nephrol. 2006;21:1653-60 pubmed
    ..The same mutations have been observed in genetically female patients with isolated FSGS. Transmission of the mutation is possible. Frasier mutations have also been reported in children with Denys-Drash syndrome...
  44. Shapiro O, Welch T, Sheridan M, Stred S, Upadhyay J. Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. Can J Urol. 2007;14:3767-9 pubmed
    ..We present a child with Denys-Drash syndrome recognized after surgery for mixed gonadal dysgenesis, and discuss screening procedures the urologist should consider in similar circumstances...
  45. Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A. Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation. Am J Med Genet A. 2008;146A:496-9 pubmed publisher
    ..This report provides additional evidence that WT1 mutations can result in diaphragmatic hernia...
  46. Kaltenis P, Schumacher V, Jankauskiene A, Laurinavicius A, Royer Pokora B. Slow progressive FSGS associated with an F392L WT1 mutation. Pediatr Nephrol. 2004;19:353-6 pubmed
    ..The individual tumor risk for this alteration cannot be given at present because neither of the two patients has shown evidence of a Wilms tumor or a gonadoblastoma to date...
  47. Onyemekeihia R, Oviasu E. Twenty-eight-year-old female with primary amenorrhea and chronic renal failure: a case of Frasier syndrome?. J Natl Med Assoc. 2004;96:256-8 pubmed
    ..The presentation of this case is informed by the need to create awareness about this rare syndrome being a possible cause of CRF in some of our patients...
  48. Faustino N, Cooper T. Pre-mRNA splicing and human disease. Genes Dev. 2003;17:419-37 pubmed
  49. Loirat C, André J, Champigneulle J, Acquaviva C, Chantereau D, Bourquard R, et al. WT1 splice site mutation in a 46,XX female with minimal-change nephrotic syndrome and Wilms' tumour. Nephrol Dial Transplant. 2003;18:823-5 pubmed
  50. Ratelade J, Arrondel C, Hamard G, Garbay S, Harvey S, Biebuyck N, et al. A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. Hum Mol Genet. 2010;19:1-15 pubmed publisher
    ..These results provide novel clues in our understanding of normal glomerular function and early events involved in glomerulosclerosis...
  51. Little S, Hanks S, King Underwood L, Picton S, Cullinane C, Rapley E, et al. A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome. Pediatr Nephrol. 2005;20:81-5 pubmed
    ..Our results provide important physiological evidence that the first 40 amino acids of WT1 are capable of functionally important interactions, presumably through their ability to self-associate with full-length WT1...
  52. Kohsaka T, Tagawa M, Yamada M. [Denys-Drash syndrome]. Nihon Rinsho. 2006;Suppl 3:457-64 pubmed
  53. Labrune P. [Fraser syndrome: molecular basis and description of an animal model]. Arch Pediatr. 2004;11:369-70 pubmed
  54. Zugor V, Zenker M, Dotsch J, Schrott K, Schott G. [Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports]. Urologe A. 2005;44:1197-200 pubmed
    ..It would be important to perform a diagnostic work-up for WT1 gene mutation in children who develop renal failure in the 1st year of life...
  55. Hartwig A. Zinc finger proteins as potential targets for toxic metal ions: differential effects on structure and function. Antioxid Redox Signal. 2001;3:625-34 pubmed
  56. Shimoyama H, Nakajima M, Naka H, Park Y, Hori K, Morikawa H, et al. A girl with bilateral ovarian tumours: Frasier syndrome. Eur J Pediatr. 2002;161:81-3 pubmed
  57. Gao F, Maiti S, Sun G, Ordonez N, Udtha M, Deng J, et al. The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. Mol Cell Biol. 2004;24:9899-910 pubmed
    ..Thus, it will be a powerful and biologically relevant model for investigating the pathobiology of the earliest events in glomerulosclerosis...
  58. Chang H, Ho K, Wang L, Lee K, Huang I, Kuo W, et al. Clinical spectrum of Fraser's syndrome: case report and review of the literature. J Otolaryngol. 2004;33:268-71 pubmed
  59. Wasilewska A, Zoch Zwierz W, Tenderenda E, Rybi Szuminska A, Kołodziejczyk Z. [WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report]. Pol Merkur Lekarski. 2009;26:642-4 pubmed
    ..The significance of early recognition of Frasier syndrome and its differentiation from Denys-Drash syndrome was discussed. WT1 mutation analysis should be routinely done in females with steroid-resistant nephritic syndrome...
  60. Auber F, Lortat Jacob S, Sarnacki S, Jaubert F, Salomon R, Thibaud E, et al. Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes). J Pediatr Surg. 2003;38:124-9; discussion 124-9 pubmed
    ..Germline mutations of this gene have been observed in patients with Drash or Frasier syndrome (Sd). The purpose of this report is to compare phenotype and genotype of these patients...
  61. Guaragna M, Soardi F, Assumpção J, Zambaldi L, Cardinalli I, Yunes J, et al. The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome. J Pediatr Hematol Oncol. 2010;32:486-8 pubmed publisher
    ..The p.H377N mutation is predicted to diminish the WT1 protein DNA-binding affinity as it might disrupt the normal zinc finger 2 conformation...
  62. Matsuzawa Watanabe Y, Inoue J, Semba K. Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1. Oncogene. 2003;22:7900-4 pubmed
    ..These results suggest that WT1 forms a complex with SRY to regulate transcription and that this WT1-SRY interaction is important in testis development...
  63. Puczko Nogal B, Nogal P, Bilińska W, Kulig A, Nowicki M. [Denys-Drash syndrome: a case report]. Pol Merkur Lekarski. 2003;14:342-3 pubmed
    ..The baby died at the age of 102 days. The autopsy examination confirmed renal changes in the form of diffuse fibrosis; gonads of testicular structure were found in the abdominal cavity...
  64. Hu M, Zhang G, Arbuckle S, Graf N, Shun A, Silink M, et al. Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene. Nephrol Dial Transplant. 2004;19:223-6 pubmed
    ..WT1 is a signalling protein with 90% of WT1 mutations occurring in the WT1 zinc finger region as single nucleotide polymorphisms, the majority of which are missense mutations...
  65. Zwolinska D. [The genetic background of congenital nephrotic syndrome]. Przegl Lek. 2006;63 Suppl 3:10-1 pubmed
  66. Natoli T, Liu J, Eremina V, Hodgens K, Li C, Hamano Y, et al. A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development. J Am Soc Nephrol. 2002;13:2058-67 pubmed
    ..These results suggest that WT1 controls the expression of growth factors that regulate glomerular capillary development and that abnormal capillary development might lead to glomerular disease...
  67. Patek C, Brownstein D, Fleming S, Wroe C, Rose L, Webb A, et al. Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1tmT396). Transgenic Res. 2008;17:459-75 pubmed
  68. Tajima T, Sasaki S, Tanaka Y, Kusunoki H, Nagashima T, Nonomura K, et al. 46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation. Horm Res. 2003;60:302-5 pubmed
    ..Donor splice site heterozygous mutations in intron 9 of the Wilms' tumor gene (WT1) cause this disease. We investigated whether WT1 mutations showed clinical heterogeneity...
  69. Chiang P, Aliaga S, Travers S, Spector E, Tsai A. Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. Curr Opin Pediatr. 2008;20:103-6 pubmed publisher
    ..Based on lessons learned from this patient, the diagnosis of Denys-Drash syndrome should be considered in the presence of ambiguous genitalia and partial androgen insensitivity...
  70. Alomari A, Tham J. Denys-Drash syndrome (DDS). Pediatr Nephrol. 2006;21:1237-40 pubmed
  71. Wong L, Lin Y, Suwannarat P, Hsu C, Kwon H, Mackowiak S. Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome. Clin Genet. 2005;67:252-7 pubmed
    ..This represents a unique case with sex reversal, Fraser-like syndrome, and mitochondrial disease...
  72. Chak W, To K, Cheng Y, Tsui K, Lo K, Tong H, et al. Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene. Nephron. 2002;91:526-9 pubmed
    ..Since the mutation was not found in either parents, gonadal mosaicism was suggested. The implication of family screening for WT1 gene mutation in asymptomatic members is also discussed...
  73. Jaubert F, Vasiliu V, Patey Mariaud de Serre N, Auber F, Jeanpierre C, Gubler M, et al. Gonad development in Drash and Frasier syndromes depends on WT1 mutations. Arkh Patol. 2003;65:40-4 pubmed
    ..A caryotype is mandatory for a correct diagnosis...
  74. Fukuzawa R, Sakamoto J, Heathcott R, Hata J. A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7. J Med Genet. 2002;39:e48 pubmed