The clinical features of a known mendelian disease can occasionally be mimicked by the random co-occurrence of 2 different conditions in the same individual. We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4. This case illustrates how detailed and accurate clinical data are needed to interpret exome-scale genetic testing results.
Article InformationCorresponding Author: Edwin M. Stone, MD, PhD, Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, 200 Hawkins Dr, Iowa City, IA 52242 (firstname.lastname@example.org).
Published Online: May 28, 2015. doi:10.1001/jamaophthalmol.2015.1463.
Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.
Funding/Support: This work was supported by the Stephen A. Wynn Foundation, the Foundation Fighting Blindness, and the Howard Hughes Medical Institute.
Role of the Funder/Sponsor: The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.