wagr syndrome

Summary

Summary: A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.

Top Publications

  1. Pinna A, Carta A, Mannazzu M, Dore S, Balata A, Carta F. WAGR syndrome with deletion of chromosome 11p11.2-13. J AAPOS. 2004;8:396-7 pubmed
  2. Han J, Liu Q, Jones M, Levinn R, Menzie C, Jefferson George K, et al. Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N Engl J Med. 2008;359:918-27 pubmed publisher
    ..Hyperphagia and obesity were observed in a subgroup of patients with the WAGR syndrome. We hypothesized that the subphenotype of obesity in the WAGR syndrome is attributable to deletions that ..
  3. Xu S, Han J, Morales A, Menzie C, Williams K, Fan Y. Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. Cytogenet Genome Res. 2008;122:181-7 pubmed publisher
    ..are caused by deletion of WT1 and PAX6 respectively, the genomic cause of mental retardation and autism in WAGR syndrome remains unknown...
  4. Tyagi R, Shenoy A, Visweswariah S. Characterization of an evolutionarily conserved metallophosphoesterase that is expressed in the fetal brain and associated with the WAGR syndrome. J Biol Chem. 2009;284:5217-28 pubmed publisher
    ..and identified many eukaryotic genes that included the human 239FB gene present in the region deleted in the WAGR syndrome. We report here the first detailed biochemical characterization of the rat 239FB protein and show that it ..
  5. Le Caignec C, Delnatte C, Vermeesch J, Boceno M, Joubert M, Lavenant F, et al. Complete sex reversal in a WAGR syndrome patient. Am J Med Genet A. 2007;143A:2692-5 pubmed
    ..Children with WAGR syndrome invariably have a constitutional chromosomal deletion at 11p13...
  6. Jung R, Rauch A, Salomons G, Verhoeven N, Jakobs C, Michael Gibson K, et al. Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. Mol Genet Metab. 2006;88:256-60 pubmed
    ..587G>A; p.Gly196Asp) in the SSADH coding sequence. We further confirmed an incomplete WAGR syndrome in this boy [karyotype 46, XY, del (11) (p13p14...
  7. Bremond Gignac D, Gerard Blanluet M, Copin H, Bitoun P, Baumann C, Crolla J, et al. Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. Am J Med Genet A. 2005;134:422-5 pubmed
    ..We report two monozygotic twins and a third, unrelated patient with WAGR syndrome and additional clinical features not usually associated with WAGR...
  8. Amor D. Morbid obesity and hyperphagia in the WAGR syndrome. Clin Dysmorphol. 2002;11:73-4 pubmed
    A 33-year-old man with WAGR syndrome is described with morbid obesity associated with hyperphagia and an apparent lack of satiety...
  9. Gul D, Ogur G, Tunca Y, Ozcan O. Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11)(p12p14). Am J Med Genet. 2002;107:70-1 pubmed

More Information

Publications71

  1. Yi T, Weng J, Siwko S, Luo J, Li D, Liu M. LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects. J Biol Chem. 2014;289:8767-80 pubmed publisher
    AGR syndrome (the clinical triad of aniridia, genitourinary anomalies, and mental retardation, a subgroup of WAGR syndrome for Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation) is a rare syndrome caused by a ..
  2. Mahale A, Poornima V, Shrestha M. WAGR syndrome--a case report. Nepal Med Coll J. 2007;9:138-40 pubmed
    The WAGR syndrome is a multiple congenital anomaly-mental retardation syndrome caused by interstitial deletion of the distal portion of chromosome 11p13...
  3. Fischbach B, Trout K, Lewis J, Luis C, Sika M. WAGR syndrome: a clinical review of 54 cases. Pediatrics. 2005;116:984-8 pubmed
    b>WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is clinically associated with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R)...
  4. Crolla J, Cawdery J, Oley C, Young I, Gray J, Fantes J, et al. A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. J Med Genet. 1997;34:207-12 pubmed
  5. Millar A, Cox S, Davidson A. Management of bilateral Wilms tumours. Pediatr Surg Int. 2017;33:461-469 pubmed publisher
    ..BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, WAGR syndrome, Denys-Drash Syndrome, hemihypertrophy, or one of the other overgrowth syndromes...
  6. Blanco Kelly F, Palomares M, Vallespin E, Villaverde C, Martín Arenas R, Vélez Monsalve C, et al. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. PLoS ONE. 2017;12:e0172363 pubmed publisher
    ..deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases...
  7. Yadav P, Mahajan A, Kandpal D, Chowdhary S. Nephron-sparing Surgery for Syndromic Wilms' Tumor: Robotic Approach. Urology. 2018;116:172-175 pubmed publisher
    The current standard treatment for stage I Wilms' tumor is open radical nephrectomy. Patients with WAGR syndrome and Wilms' tumor have risk of contralateral tumor and are a group of patients benefitted by nephron-sparing surgery (NSS)...
  8. Huynh M, Boudry Labis E, Duban B, Andrieux J, Tran C, Tampere H, et al. WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. Am J Med Genet A. 2017;173:1690-1693 pubmed publisher
    ..We also propose a model of complex interactions of different genetic variants for this particular phenotype in the present patient. ..
  9. Han J. Rare Syndromes and Common Variants of the Brain-Derived Neurotrophic Factor Gene in Human Obesity. Prog Mol Biol Transl Sci. 2016;140:75-95 pubmed publisher
    Rare genetic disorders that cause BDNF haploinsufficiency, such as WAGR syndrome, 11p deletion, and 11p inversion, serve as models for understanding the role of BDNF in human energy balance and neurocognition...
  10. 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
    ..associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation)...
  11. Gucev Z, Muratovska O, Laban N, Misevska L, Jancevska A, Crolla J, et al. Billateral polycystic kidneys in a girl with WAGR syndrome. Indian J Pediatr. 2011;78:1290-2 pubmed publisher
    ..In addition, Wilms tumor can have a very rapid growth, which, per se requires frequent and careful ultrasound kidney controls. Polycystic kidneys can be part of the WAGR presentation. ..
  12. Justice E, Barnum S, Kidd T. Correction: The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene. PLoS Genet. 2017;13:e1007061 pubmed publisher
    ..This corrects the article DOI: 10.1371/journal.pgen.1006865.]...
  13. Franzoni A, Russo P, Baldan F, D Elia A, Puppin C, Penco S, et al. A CGH array procedure to detect PAX6 gene structural defects. Mol Cell Probes. 2017;32:65-68 pubmed publisher
    ..When these deletions are large and involve other genes, a more complex disease, named WAGR syndrome, arises...
  14. Termine C, Parigi G, Rossi M, Romano P, Balottin U. WAGR syndrome: is the 'R' always justified?. Clin Dysmorphol. 2007;16:69-70 pubmed
    Although mild-to-moderate intellectual disability is usually considered part of WAGR syndrome (Wilms' tumour (WT), Aniridia, Genital abnormalities, and metal Retardation, due to 11p13 deletion) the neuropsychological profile of the ..
  15. Orawiec B, Młynarski W, Budzińska Mikurenda M, Grałek M, Szewczyk Zalewska B, Niwald A. [Sporadic aniridia and Wilm's tumor--a case report and review of recommendation for diagnostic approach in WAGR's syndrome]. Klin Oczna. 2010;112:321-3 pubmed
    ..These with deletions should be monitored regularly for tumor development...
  16. Braun K, May M, Erler T, Hoschke B. [Multicystic renal tumor in a patient with WAGR syndrome]. Urologe A. 2007;46:671-4 pubmed
    The WAGR syndrome is a combination of Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation. We report on a 2-year-old boy, who had a deletion of the aniridia gene PAX6 and the Wilms' tumor gene 1 (WT1 gene)...
  17. Froguel P, Blakemore A. The power of the extreme in elucidating obesity. N Engl J Med. 2008;359:891-3 pubmed publisher
  18. Schwartz F, Eisenman R, Knoll J, Gessler M, Bruns G. cDNA sequence, genomic organization, and evolutionary conservation of a novel gene from the WAGR region. Genomics. 1995;29:526-32 pubmed
    ..The extensive conservation of the predicted protein suggests a fundamental function of the gene product and will enable evaluation of the role of the 239FB gene in neurogenesis in model organisms...
  19. Justice E, Barnum S, Kidd T. The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene. PLoS Genet. 2017;13:e1006865 pubmed publisher
    b>WAGR syndrome is characterized by Wilm's tumor, aniridia, genitourinary abnormalities and intellectual disabilities. WAGR is caused by a chromosomal deletion that includes the PAX6, WT1 and PRRG4 genes...
  20. Redeker E, de Visser A, Bergen A, Mannens M. Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. Mol Vis. 2008;14:836-40 pubmed
    ..The mutation detection rate will increase from 49% to 60%. This shows that MLPA substantially enhances the molecular diagnosis of aniridia...
  21. Bremond Gignac D, Crolla J, Copin H, Guichet A, Bonneau D, Taine L, et al. Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Eur J Hum Genet. 2005;13:409-13 pubmed
    ..Molecular and follow-up data on the original WAGRO case are briefly presented...
  22. Kaneko Y. [WAGR syndrome]. Nihon Rinsho. 2006;Suppl 3:605-8 pubmed
  23. Lennon P, Scott D, Lonsdorf D, Wargowski D, Kirkpatrick S, Patel A, et al. WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. Am J Med Genet A. 2006;140:1214-8 pubmed
    ..unilateral hydronephrosis, poor linear growth, and gross motor delay consistent with a clinical diagnosis of WAGR syndrome. In addition, weight-for-height ratio at 12 months is at the 94th centile, raising the possibility of a ..
  24. Farooqi I. Genetic and hereditary aspects of childhood obesity. Best Pract Res Clin Endocrinol Metab. 2005;19:359-74 pubmed
  25. Breslow N, Takashima J, Ritchey M, Strong L, Green D. Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. Cancer Res. 2000;60:4030-2 pubmed
    ..Patients with Wilms' tumor and aniridia or genitourinary abnormalities should be followed closely throughout life for signs of nephropathy or RF...
  26. Guillemot F, Auffray C, Devignes M. Detailed transcript map of a 810-kb region at 11p14 involving identification of 10 novel human 3' exons. Eur J Hum Genet. 1999;7:487-95 pubmed
    ..Since this area is involved in a genetic disorder (WAGR syndrome) and because of interest in studying the regulation of the human BDNF gene, we have established a detailed ..
  27. Uccini S, Perotti D, Colarossi C, Stoppacciaro A, Sardella M, Mannarino O, et al. Molecular evidence of the independent origin of multiple Wilms tumors in a case of WAGR syndrome. Pediatr Blood Cancer. 2008;51:344-8 pubmed publisher
    This study investigated the genetic events leading to tumorigenesis in a patient affected with WAGR syndrome who developed multiple distinct Wilms tumors (WTs).
  28. Schneider P, Drouin Garraud V, Bachy B, Brasseur G, Lahsinat K, Hemet J, et al. [Aniridia and Wilms tumor: 2 cases of fetal rhabdomyomatous nephroblastoma]. Arch Pediatr. 1996;3:1243-7 pubmed
    ..Among those, aniridia is the most constant feature of the WAGR syndrome that includes, in one third of cases. Wilms tumor...
  29. Cho E, Kim S, Kim J. A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome. J Korean Med Sci. 2012;27:1273-7 pubmed publisher
    ..To the best of our knowledge, this is the first report of a male with a 9.7 Mb terminal Xp deletion including the OA1 locus in Korea...
  30. Nanclares G, Martinez F, Bilbao J, Navajas A, Martinez R, López Arístegui M, et al. A submicroscopic deletion of 11p13 associated with the WAGR syndrome. Clin Genet. 2003;63:319-22 pubmed
  31. Demir H, Varan A, Utine E, Aktas D, Oguz B, Rama D, et al. WAGR syndrome with tetralogy of Fallot and hydrocephalus. J Pediatr Hematol Oncol. 2011;33:e174-5 pubmed publisher
    ..A variety of other abnormalities involving different systems have been reported in patients with WAGR syndrome. We report on a patient with WAGR syndrome with accompanying tetralogy of Fallot and hydrocephalus.
  32. Couillin P, Le Guern E, Vignal A, Fizames C, Ravise N, Delportes D, et al. Assignment of 112 microsatellite markers to 23 chromosome 11 subregions delineated by somatic hybrids: comparison with the genetic map. Genomics. 1994;21:379-87 pubmed
  33. Tay J. Molecular genetics of Wilms' tumour. J Paediatr Child Health. 1995;31:379-83 pubmed
    ..The WT2 gene maps to 11p15 in the region of the Beckwith-Wiedemann locus. The WT3 locus is likely to be located to chromosome 16q. The understanding of the molecular genetics of Wilms' tumour is reviewed briefly...
  34. Chao L, Mishra R, Strong L, Saunders G. Missense mutations in the DNA-binding region and termination codon in PAX6. Hum Mutat. 2003;21:138-45 pubmed
    ..One patient with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR syndrome) had deletion of 11p and had lost the paternal PAX6 allele...
  35. Schwartz F, Neve R, Eisenman R, Gessler M, Bruns G. A WAGR region gene between PAX-6 and FSHB expressed in fetal brain. Hum Genet. 1994;94:658-64 pubmed
    ..stimulating hormone (FSHB), within a region previously implicated in the mental retardation component of some WAGR syndrome patients...
  36. Moreno Garcia M, Sanchez del Pozo J, Fernández Martínez F, Moreno Izquierdo A, Barreiro Miranda E. [WAGR syndrome: a case report]. An Esp Pediatr. 1998;49:381-7 pubmed
    b>WAGR syndrome is a rare syndrome which involves microdeletions of the short arm of chromosome 11 at band 11p13. The clinical features are Wilms' tumor, amiridia, genitourinary abnormalities and mental retardation...
  37. Marlin S, Couet D, Lacombe D, Cessans C, Bonneau D. Obesity: a new feature of WAGR (del 11p) syndrome. Clin Dysmorphol. 1994;3:255-7 pubmed
    ..This girl has the multiple congenital anomalies that defines the WAGR syndrome (aniridia, external genital hypoplasia and severe mental retardation)...
  38. 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
    ..The Denys-Drash and WAGR syndrome group had a greater proportion of maldescended testes than the AR mutation (P=0...
  39. Wu M, Michaud E, Johnson D. Cloning, functional study and comparative mapping of Luzp2 to mouse chromosome 7 and human chromosome 11p13-11p14. Mamm Genome. 2003;14:323-34 pubmed
    ..Disruption of Luzp2 by gene targeting in mice did not result in any obvious abnormal phenotypes...
  40. Edén U, Beijar C, Riise R, Tornqvist K. Aniridia among children and teenagers in Sweden and Norway. Acta Ophthalmol. 2008;86:730-4 pubmed publisher
  41. Lorda Sanchez I, Sanz R, Diaz Guillen M, Fernandez Toral J, Heine Suñer D, Rodriguez De Alba M, et al. Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias. Genet Couns. 2002;13:171-7 pubmed
    Aniridia can arise as part of the WAGR syndrome (Wilms tumour. aniridia, genitourinary anomalies, and mental retardation), due to a deletion or chromosomal region 11p13...
  42. Trainor P, Andrews B. Facial dysostoses: Etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013;163C:283-94 pubmed publisher
    ..The ultimate management for any craniofacial anomaly however, would be prevention and we discuss this possibility in relation to facial dysostosis...
  43. Manoukian S, Crolla J, Mammoliti P, Testi M, Zanini R, Carpanelli M, et al. Bilateral preaxial polydactyly in a WAGR syndrome patient. Am J Med Genet A. 2005;134:426-9 pubmed
    We report on a 30-month-old baby girl with typical clinical features of WAGR syndrome. In addition, the patient showed bilateral preaxial polydactyly of the feet...
  44. Martín Campagne E, Guerrero Fernández J, Gracia Bouthelier R, Tovar Larrucea J. [Association between WAGR syndrome and diaphragmatic hernia]. An Pediatr (Barc). 2006;65:616-8 pubmed
    Anomalies in WT-1 (Wilms' tumor gene), mapped to 11p13, cause Denys-Drash, Frasier and WAGR syndromes. WAGR syndrome is characterized by Wilms' tumor (W), aniridia (A), genitourinary anomalies (G) and mental retardation (R)...
  45. Merta M, Reiterova J, Krkavcová M, Rysava R, Kmentova D, Tesar V. Focal segmental glomerulosclerosis in solitary kidney in WAGR syndrome. Prague Med Rep. 2004;105:69-73 pubmed
    b>WAGR syndrome consists of Wilms' tumour, aniridia, genitourinary malformations and mental retardation, and is associated with chromosomal microdeletion of 11p13...
  46. Januszkiewicz D, Daszkiewicz P. [A case of Wilm's tumor with full symptomatic WAGR syndrome]. Pediatr Pol. 1995;70:255-7 pubmed
    The authors of this paper presented a case of a baby with full-symptomatic WAGR syndrome (Wilms tumor, aniridia, genital tract malformation and mental retardation) treated in the I Department of Pediatrics, Institute of Pediatrics, ..
  47. 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...
  48. Breslow N, Norris R, Norkool P, Kang T, Beckwith J, Perlman E, et al. Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group. J Clin Oncol. 2003;21:4579-85 pubmed
    ..We compared demographics, disease characteristics, and treatment outcomes in a large cohort of WT patients who did or did not have the WAGR syndrome.
  49. Park S, Tomlinson G, Nisen P, Haber D. Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor. Cancer Res. 1993;53:4757-60 pubmed
    b>WAGR syndrome is an acronym for a rare constellation of congenital abnormalities including predisposition to Wilms' tumor, Aniridia, Genitourinary malformations, and mental Retardation...
  50. Gawin B, Klamt B, Konig A, Thäte C, Le Paslier D, Chumakov I, et al. An integrated YAC clone contig for the WAGR region on human chromosome 11p13-p14.1. Genomics. 1995;30:37-45 pubmed
    The WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) deletion region on chromosome 11p13 has been extensively characterized by deletion analysis and long-range restriction mapping...
  51. Ariel I, Abeliovich D, Bar Ziv J, Hochberg A. Renal pathology in WAGR syndrome. Pediatr Pathol Lab Med. 1996;16:1013-21 pubmed
    ..A right nephrectomy was performed following the diagnosis of Wilms' tumor in a 2-year-old girl with WAGR syndrome and chromosome 11, del 11p13...
  52. 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
  53. Han J, Thurm A, Golden Williams C, Joseph L, Zein W, Brooks B, et al. Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome. Cortex. 2013;49:2700-10 pubmed publisher
    ..We hypothesized that BDNF+/- would be associated with more severe cognitive impairment in subjects with WAGR syndrome. Twenty-eight subjects with WAGR syndrome (6-28 years), 12 subjects with isolated aniridia due to PAX6 ..
  54. Lee H, Khan R, O Keefe M. Aniridia: current pathology and management. Acta Ophthalmol. 2008;86:708-15 pubmed publisher
    ..Guarded filtration surgery appears to be effective in glaucoma. Despite our increasing understanding of the genetics and pathology of this condition, effective treatment remains elusive...
  55. Rodríguez López R, Pérez J, Balsera A, Rodríguez G, Moreno T, García de Cáceres M, et al. The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome. Gene. 2013;516:285-90 pubmed publisher
    ..The variable appearance and/or description of haploinsufficiency for obesity susceptibility in the WAGR syndrome mainly depends on the critical region located within 80 kb of exon 1 of BDNF...
  56. Austruy E, Candon S, Henry I, Gyapay G, Tournade M, Mannens M, et al. Characterization of regions of chromosomes 12 and 16 involved in nephroblastoma tumorigenesis. Genes Chromosomes Cancer. 1995;14:285-94 pubmed
    ..1-q23. We also suggest that the various pathogenetically important loci are not equally involved in the different forms of WT and that their sequential involvement may differ...
  57. Ozbey H, Boneval C, Kapran Y, Aksoyek S, Salman T, Celik A. Wilms' tumor and associated malformations; report of two cases with WAGR and Drash syndrome. Eur J Pediatr Surg. 1996;6:186-8 pubmed
    ..of Wilms' tumor with aniridia, ambiguous genitalia/gonadoblastoma and mental retardation is defined as WAGR syndrome. The association with pseudohermaphroditism and nephropathy was also described as Drash syndrome...
  58. Dome J, Coppes M. Recent advances in Wilms tumor genetics. Curr Opin Pediatr. 2002;14:5-11 pubmed
    ..An enhanced understanding of these and other genetic lesions will provide the foundation for novel targeted Wilms tumor therapies...
  59. Mathur P, Khamesera H, Pendse A, Chittora R, Porewal K. Wilm's tumour with WAGR complex. Indian J Cancer. 1996;33:136-8 pubmed
    b>WAGR Syndrome is an acronym for a rare constellation of congenital abnormalities which include Wilms' tumor, Aniridia, Genito-urinary malformations and mental Retardation...
  60. Schwartz F, Ota T. The 239AB gene on chromosome 22: a novel member of an ancient gene family. Gene. 1997;194:57-62 pubmed
    ..Phylogenetic analysis suggested that the two lineages of the ancient gene family represented by 239FB and 239AB have been in existence prior to the emergence of modern animals...
  61. Starcevic M, Mataija M. WAGR syndrome--a case report. Acta Clin Croat. 2009;48:455-9 pubmed
    ..We report on a boy born with aniridia, cryptorchidism and facial dysmorphism recognized as WAGR syndrome in neonatal period, subsequently confirmed by genetic testing. Wilms tumor developed at the age of one year...
  62. Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, et al. Sustained endocrine profiles of a girl with WAGR syndrome. BMC Med Genet. 2017;18:117 pubmed publisher
    ..obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. We report a 5-year-old girl with the typical phenotype of WAGR syndrome...