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Journal of genetic medicine v.15 no.1, 2018년, pp.38 - 42   KCI
본 등재정보는 저널의 등재정보를 참고하여 보여주는 베타서비스로 정확한 논문의 등재여부는 등재기관에 확인하시기 바랍니다.

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12

Seo, Go Hun   (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine  ); Kim, Yoon-Myung   (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine  ); Kim, Gu-Hwan   (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine  ); Seo, Eul-Ju   (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine  ); Choi, Jin Ho   (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine  ); Lee, Beom Hee   (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine  ); Yoo, Han-Wook   (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine  );
  • 초록

    WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.


  • 주제어

    WAGR syndrome .   Aniridia .   Wilms tumor.  

  • 참고문헌 (14)

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    2. Rose EA, Glaser T, Jones C, Smith CL, Lewis WH, Call KM, et al. Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms' tumor gene. Cell 1990;60:495-508. 
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    4. Almind GJ, Brondum-Nielsen K, Bangsgaard R, Baekgaard P, Gronskov K. 11p microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. Mol Cytogenet 2009;2:6. 
    5. Gronskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, 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;109:11-8. 
    6. Min KS, Baek HJ, Han DK, You JH, Hwang TJ, Kwon DD, et al. Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: successful treatment of the first case with bilateral Wilms' tumors in Korea. Korean J Pediatr 2008;51:1355-8. 
    7. Xu S, Han JC, Morales A, Menzie CM, Williams K, Fan YS. 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. 
    8. 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;174:1972-5. 
    9. Pelletier J, Bruening W, Li FP, Haber DA, Glaser T, Housman DE. WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature 1991;353:431-4. 
    10. Chao LY, Huff V, Strong LC, Saunders GF. Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutat 2000;15:332-9. 
    11. Pritchard-Jones K, Fleming S, Davidson D, Bickmore W, Porteous D, Gosden C, et al. The candidate Wilms' tumour gene is involved in genitourinary development. Nature 1990;346:194-7. 
    12. Xu PX, Zhang X, Heaney S, Yoon A, Michelson AM, Maas RL. Regulation of Pax6 expression is conserved between mice and flies. Development 1999;126:383-95. 
    13. Pinna A, Carta A, Mannazzu MC, Dore S, Balata A, Carta F. WAGR syndrome with deletion of chromosome 11p11.2-13. J AAPOS 2004;8:396-7. 
    14. Han JC, Liu QR, Jones M, Levinn RL, Menzie CM, Jefferson-George KS, et al. Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N Engl J Med 2008;359:918-27. 

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