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Abstract #9136 Published in IGR 5-2
De Novo chromosome translocation t (2; 11) (p25.1; p13) in a patient with aniridia and genitourinary abnormalities
Hung HM; Lin SC; Su PH; Chen JYActa Paediatrica Taiwanica 2003; 44: 101-103
Aniridia is a rare condition occurring in one in 64,000 to one in 96,000 live births. Approximately one-third of cases are sporadic and carry a 30% risk of Wilms' tumor developing before the age of five years. The remaining 66% are inherited in an autosomal dominant fashion. The aniridia candidate gene (PAX6) has a key role as a master regulator in the development of eye and central nervous tissues. The Wilms' tumor predisposing gene (WT1) plays an important role in the development of genitourinary tract diseases such as hypospadias, cryptorchism, horse shoe kidney, and Wilms' tumor. The WT1 and PAX6 genes are about 700 kb apart, with the WT1 gene located centromeric to PAX6 in chromosome 11p13. We report a patient with incomplete aniridia, ptosis, hypospadias, and cryptorchism. Cytogenetic analysis revealed the presence of a de novo reciprocal translocation 46, XY, t (2; 11) (p25.1; p13) without microscopic deletion. The authors suggest that haploinsufficiency in PAX6 and WT1 genes resulted in aniridia and associated genitourinary abnormalities.
Dr. P. H. Su, Department of Pediatrics, Chung Shan Med. University Hospital, Chien Kuo North Road, Taichung 402, Taiwan. jen@csh.org.tw
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
