Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia
| Autor: | Sally Ann Lynch, R. Alex Henderson, Veronica van Heyningen, Isabel M. Hanson, Michael P. Clarke, Sanjay M. Sisodiya, David R. FitzPatrick, Kathy Williamson, Sally Cumming |
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| Rok vydání: | 2007 |
| Předmět: |
Male
Proband congenital hereditary and neonatal diseases and abnormalities Microcephaly PAX6 Transcription Factor Nonsense mutation Microphthalmia Gene interaction Café au lait spot Genetics Humans Microphthalmos Paired Box Transcription Factors Medicine Missense mutation Eye Proteins Aniridia Genetics (clinical) Homeodomain Proteins Neurofibromin 1 Otx Transcription Factors business.industry medicine.disease eye diseases Pedigree Repressor Proteins Amino Acid Substitution Child Preschool Female sense organs medicine.symptom business |
| Zdroj: | European Journal of Human Genetics. 15:898-901 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/sj.ejhg.5201826 |
| Popis: | A girl with aniridia, microphthalmia, microcephaly and café au lait macules was found to have mutations in PAX6, NF1 and OTX2. A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris phenotype had not been evident because of ocular neurofibromatosis. Analysis of the NF1 gene in the proband, prompted by the mother's diagnosis and the presence of café au lait spots, revealed a nonsense mutation (p.R192X). Subsequently an OTX2 nonsense mutation (p.Y179X) was identified and shown to be inherited from her father who was initially diagnosed with Leber's congenital amaurosis. Since individual mutations in PAX6, OTX2 or NF1 can cause a variety of severe developmental defects, the proband's phenotype is surprisingly mild. This case shows that patients with complex phenotypes should not be eliminated from subsequent mutation analysis after one or even two mutations are found. |
| Databáze: | OpenAIRE |
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