Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?
| Autor: | C M, Aalfs, J A, Fantes, L J, Wenniger-Prick, S, Sluijter, R C, Hennekam, V, van Heyningen, J M, Hoovers |
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| Rok vydání: | 1998 |
| Předmět: |
Chromosome Aberrations
Homeodomain Proteins PAX6 Transcription Factor Chromosomes Human Pair 11 Developmental Disabilities Gene Dosage Infant Chromosome Disorders DNA-Binding Proteins Repressor Proteins Face Karyotyping Multigene Family Humans Paired Box Transcription Factors Female Eye Abnormalities Eye Proteins |
| Zdroj: | American journal of medical genetics. 73(3) |
| ISSN: | 0148-7299 |
| Popis: | We report on a girl with a duplication of chromosome band 11p12--13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6). The girl had borderline developmental delay, mild facial anomalies, and eye abnormalities. Eye findings were also present in most of the 11 other published cases with partial trisomy 11p, including 11p12--13. Recently, it was shown that introduction of additional copies of the PAX6 gene into mice caused very variable eye abnormalities. Therefore, a PAX6 gene dosage effect is likely to be present in mice and humans. The central nervous system may be less sensitive to an altered PAX6 gene dosage, which is consistent with the borderline developmental delay in the present patient. Urogenital abnormalities were absent in this patient and in most of the other patients with partial trisomy of 11p. Therefore, the effect of a WT1 gene duplication on the embryological development of the urogenital tract remains uncertain. |
| Databáze: | OpenAIRE |
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