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Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia

Lookup NU author(s): Dr Ross Henderson, Michael Clarke, 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.

Publication metadata

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

Year: 2007

Volume: 15

Issue: 8

Pages: 898-901

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group


DOI: 10.1038/sj.ejhg.5201826

PubMed id: 17406642


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Funder referenceFunder name
MC_U127527199Medical Research Council