title: A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.
abstract: A case of an adolescent male with renal-coloboma syndrome (RCS) showing developmental delay is described. Birth and perinatal histories were typical. Proteinuria was initially observed at the age of 7 years during an annual mass screening program for school children. His urine was checked periodically at a local hospital. Because of an increase in proteinuria, he was referred to our hospital for further clinical evaluation. Proteinuria was moderate, ranging from 1.0 to 1.5 g/day, and was coupled with mild renal dysfunction. At that time, he was found to have myopia associated with astigmatism. He exhibited mild developmental delay, assessed by a WISC-III test. A renal biopsy sample showed marked glomerular enlargement, collapse of glomerular capillaries, mesangial matrix expansion, and tubulointerstitial change, demonstrating typical histologic features of RCS. Approximately five years after starting follow-up, the patient had severe renal dysfunction. Furthermore, optic nerve coloboma was also evident. Genetic analysis of the patient revealed a novel heterozygous mutation in exon 3 of the PAX2 gene (P130H).
authors: Department of Pediatrics, Kinki University School of Medicine, Osaka 589-8511, Japan
authors: T
authors: T
authors: Miyazawa
authors: M
authors: M
authors: Nakano
authors: Y
authors: Y
authors: Takemura
authors: K
authors: K
authors: Miyazaki
authors: H
authors: H
authors: Yanagida
authors: S
authors: S
authors: Fujita
authors: K
authors: K
authors: Sugimoto
authors: M
authors: M
authors: Okada
authors: T
authors: T
authors: Takemura
mesh_terms: D000015:Abnormalities, Multiple; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009154:Mutation; D009898:Optic Disk / Q000002:abnormalities*; D051762:PAX2 Transcription Factor / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult
chemical_list: D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D004247:DNA