Truncating Variants in the Majority of the Cytoplasmic Domain of PCDH15 Are Unlikely to Cause Usher Syndrome 1F Cynthia Perreault-Micale, Alexander Frieden,

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Truncating Variants in the Majority of the Cytoplasmic Domain of PCDH15 Are Unlikely to Cause Usher Syndrome 1F Cynthia Perreault-Micale, Alexander Frieden, Caleb J. Kennedy, Dana Neitzel, Jessica Sullivan, Nicole Faulkner, Stephanie Hallam, Valerie Greger The Journal of Molecular Diagnostics Volume 16, Issue 6, Pages 673-678 (November 2014) DOI: 10.1016/j.jmoldx.2014.07.001 Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 The ethnic distribution of the study population. The study group comprised 14,264 patients referred by fertility clinics in the United States for carrier screening. Ethnicity was self-reported. The raw numbers of patients in each ethnic group are shown in parenthesis. Other refers to all patients who could not be assigned to one of the major categories. The Journal of Molecular Diagnostics 2014 16, 673-678DOI: (10.1016/j.jmoldx.2014.07.001) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Schematic view of the location of PCDH15 truncating variants found by exons (top) and protein domains (bottom). p.Arg245X is the Ashkenazi Jewish founder variant. c.4257delA in exon 32 is the last truncating variant reported in a patient with Usher syndrome type IF,13 but this was not found in our patient cohort. Numbering refers to amino acids as described in Uniprot (http://www.uniprot.org/uniprot, accession number Q96QU1), NM_033056.3 (noncoding exon 1). Note that exons are not drawn exactly to scale. The Journal of Molecular Diagnostics 2014 16, 673-678DOI: (10.1016/j.jmoldx.2014.07.001) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions