Clinical utility gene card for: WAGR syndrome

European Journal of Human Genetics

Volumn 19, Issue 4, 2011, Pages 492-

  Clericuzio, Carol ^a   Hingorani, Melanie ^b   Crolla, John A ^c   Van Heyningen, Veronica ^d   Verloes, Alain ^e  

^a UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^b HINCHINGBROOKE HOSPITAL   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

^e HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX6; WT1 PROTEIN; DIAGNOSTIC AGENT; EYE PROTEIN; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

ANIRIDIA; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FAMILY HISTORY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC RISK; GENOTYPE; MENTAL RETARDATION MALFORMATION SYNDROME; NEPHROBLASTOMA; NOTE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; SENSITIVITY AND SPECIFICITY; UROGENITAL TRACT MALFORMATION; WAGR SYNDROME; ARTICLE; CHROMOSOME 11; GENETIC SCREENING; GENETICS; HUMAN;

CHROMOSOMES, HUMAN, PAIR 11; EYE PROTEINS; GENETIC TESTING; HOMEODOMAIN PROTEINS; HUMANS; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS; WAGR SYNDROME; WT1 PROTEINS;

EID: 79952764114     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.220     Document Type: Note

References (10)

1. Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA: Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet 2008; 146A: 558-569
2. Redeker EJ, de Visser AS, Bergen AA, Mannens MM: Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. Mol Vis 2008; 14: 836-840 (Pubitemid 351699497)
3. Grønskov K, Olsen JH, Sand A et al: Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum Genet 2001; 109: 11-18 (Pubitemid 32743188)
4. van Heyningen V, Hoovers JMN, de Kraker J, Crolla JA: Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion. Med Genet 2007; 44: 787-790 (Pubitemid 350275053)
5. Breslow NE, Collins AJ, Ritchey ML, Grigoriev YA, Peterson SM, Green DM: 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: 1972-1975 (Pubitemid 41546998)
6. Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M: WAGR syndrome: a clinical review of 54 cases. Pediatrics 2005; 116: 984-988 (Pubitemid 44542829)
7. Han JC, Liu QR, Jones M et al: Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N Engl J Med 2008; 359: 918-927
8. Clericuzio CL, D'Angio GL, Duncan M, Green DM, Knudson Jr AG: Summary and recommendations: first international congress on clinical and molecular genetics of childhood renal tumors. Med Pediatr Oncol 1993; 21: 223-230
9. Fantes JA, Bickmore WA, Fletcher JM, Ballesta F, Hanson IM, van Heyningen V: Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. Am J Hum Genet 1992; 51: 1286-1294 (Pubitemid 23001087)
10. Henry I, Hoovers J, Barichard F et al: Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family. Genes Chromosomes Cancer 1993; 7: 57-62. (Pubitemid 23141742)