Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations
| Autor: | Schimmenti, L A, Cunliffe, H E, McNoe, L A, Ward, T A, French, M C, Shim, H H, Zhang, Y H, Proesmans, W, Leys, A, Byerly, K A, Braddock, S R, Masuno, M, Imaizumi, K, Devriendt, K, Eccles, M R |
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| Jazyk: | angličtina |
| Rok vydání: | 1997 |
| Předmět: |
Adult
Male Molecular Sequence Data urologic and male genital diseases Kidney Humans Abnormalities Multiple Cloning Molecular Child PAX2 Transcription Factor Genetic Variation Optic Nerve Exons Sequence Analysis DNA Syndrome Middle Aged eye diseases body regions Coloboma DNA-Binding Proteins Phenotype Mutation Female sense organs Research Article Transcription Factors |
| Popis: | Renal-coloboma syndrome is a recently described autosomal dominant syndrome of abnormal optic nerve and renal development. Two families have been reported with renal-coloboma syndrome and mutations of the PAX2 gene. The PAX2 gene, which encodes a DNA-binding protein, is expressed in the developing ear, CNS, eye, and urogenital tract. Ocular and/or renal abnormalities have been consistently noted in the five reports of patients with renal-coloboma syndrome, to date, but PAX2 expression patterns suggest that auditory and CNS abnormalities may be additional features of renal-coloboma syndrome. To determine whether additional clinical features are associated with PAX2 mutations, we have used PCR-SSCP to identify PAX2 gene mutations in patients. We report here four patients with mutations in exon 2, one of whom has severe ocular and renal disease, microcephaly, and retardation, and another who has ocular and renal disease with high-frequency hearing loss. Unexpectedly, extreme variability in clinical presentation was observed between a mother, her son, and an unrelated patient, all of whom had the same PAX2 mutation as previously described in two siblings with renal-coloboma syndrome. These results suggest that a sequence of seven Gs in PAX2 exon 2 may be particularly prone to mutation. |
| Databáze: | OpenAIRE |
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