2.Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: Successful treatment of the first case with bilateral Wilms' tumors in Korea.
Kyung Sun MIN ; Hee Jo BAEK ; Dong Kyun HAN ; Ju Hee YOU ; Tai Ju HWANG ; Dong Deuk KWON ; Hoon KOOK
Korean Journal of Pediatrics 2008;51(12):1355-1358
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.
Aniridia
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Humans
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Intellectual Disability
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Korea
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Parturition
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Preschool Child
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WAGR Syndrome
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Wilms Tumor
3.A nonsense PAX6 mutation in a family with congenital aniridia.
Kyoung Hee HAN ; Hye Jin LEE ; Il Soo HA ; Hee Gyung KANG ; Hae Il CHEONG
Korean Journal of Pediatrics 2016;59(Suppl 1):S1-S4
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.
Aniridia*
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Codon, Nonsense
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Family Characteristics
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Genes, Essential
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Humans
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Iris
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WAGR Syndrome
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Wilms Tumor
4.Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12.
Go Hun SEO ; Yoon Myung KIM ; Gu Hwan KIM ; Eul Ju SEO ; Jin Ho CHOI ; Beom Hee LEE ; Han Wook YOO
Journal of Genetic Medicine 2018;15(1):38-42
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.
Aniridia
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Comparative Genomic Hybridization
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Cytogenetics
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Drug Therapy
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Gene Deletion
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Humans
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Intellectual Disability
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Ultrasonography
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Urogenital Abnormalities
;
WAGR Syndrome*
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Wilms Tumor*
5.Typical WAGR syndrome in a case.
Xue-song ZHENG ; Ning HAN ; Lu KUANG
Chinese Journal of Pediatrics 2013;51(3):237-239
6.A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome.
Eun Hae CHO ; Sook Young KIM ; Jin Kyung KIM
Journal of Korean Medical Science 2012;27(10):1273-1277
Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we present a case of a 13.5 yr old boy and sister with a same terminal deletion of Xp22.2 resulting in the absence of genes from the telomere of Xp to GPR143 of Xp22. The boy manifested the findings of all of the disorders mentioned above. We began a testosterone enanthate monthly replacement therapy. His sister, 11 yr old, manifested only Leri-Weill dyschondrosteosis, and had engaged in growth hormone therapy for 3 yr. 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.
Abnormalities, Multiple/*genetics
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Adolescent
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Child
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Chromosome Deletion
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*Chromosomes, Human, X
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Eye Proteins/genetics
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Female
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Genetic Loci
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Growth Hormone/therapeutic use
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Humans
;
Male
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Membrane Glycoproteins/genetics
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Telomere/genetics
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WAGR Syndrome/*diagnosis/genetics/therapy