• Clinical and Experimental Pediatrics
• /
• v.51 no.12
• /
• pp.1355-1358
• /
• 2008

Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is caused by deletion of chromosome 11p13, including the Wilms' tumor (WT1) and aniridia gene (PAX6) loci. Here, we report the first case of WAGR syndrome in Korea; the patient was a 2-year-old girl with bilateral aniridia from birth who presented with abdominal distention and mental retardation. Cytogenetically, she had deletion of chromosome 11p11.2-13. Bilateral Wilms' tumors were successfully treated by chemotherapy and surgery. She has been tumor-free for 19 months off chemotherapy with preserved renal function.

• Journal of Genetic Medicine
• /
• v.15 no.1
• /
• pp.38-42
• /
• 2018

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.

• Clinical and Experimental Pediatrics
• /
• v.59 no.sup1
• /
• pp.1-4
• /
• 2016

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6 ), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.