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Lookup NU author(s): Dr Ross Henderson,
Dr Sally Lynch
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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.
Author(s): Henderson RA, Williamson K, Cumming S, Clarke MP, Lynch SA, Hanson IM, FitzPatrick DR, Sisodiya S, van Heyningen V
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
PubMed id: 17406642
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