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

R Alex Henderson, Kathy Williamson, Sally Cumming, Michael P Clarke, Sally Ann Lynch, Isabel M Hanson, David R FitzPatrick, Sanjay Sisodiya, Veronica van Heyningen

Research output: Contribution to journalArticlepeer-review

Abstract

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.
Original languageEnglish
Pages (from-to)898-901
Number of pages4
JournalEuropean Journal of Human Genetics
Volume15
Issue number8
DOIs
Publication statusPublished - 2007

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