Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 15, Issue 8, Pages 898-901Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5201826
Keywords
aniridia; microphthalmia; gene interactions
Funding
- Medical Research Council [MC_U127527199] Funding Source: Medline
- Medical Research Council [MC_U127527199] Funding Source: researchfish
- MRC [MC_U127527199] Funding Source: UKRI
Ask authors/readers for more resources
A girl with aniridia, microphthalmia, microcephaly and cafe 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 cafe 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available