Figure 3.

Symptoms of retinal dystrophy, atypical atrial flutter, and lymphocyte immunodeficiency among carriers versus non-carriers of rare, predicted loss-of-function variants in ERCC6 in the BioMe Biobank.

Symptoms of retinal dystrophy (RD), atypical atrial flutter (AAF), and lymphocyte immunodeficiency (LI) among carriers versus non-carriers of rare, predicted loss-of-function variants in ERCC6 in the BioMe Biobank. Participants who lacked a formal diagnosis of RD, AAF, LI were included in the analyses (34 ERCC6 LoF carriers; 370 non-carriers). Proportion of symptoms for each of the three diseases in carriers was compared to that of non-carriers using Fisher’s exact test. Symptoms of RD included loss of peripheral vision, nyctalopia, loss of color vision, photophobia, and decreased visual acuity. Symptoms of AAF included palpitations, tachycardia, dyspnea, angina, dizziness, light-headedness, and syncope. Symptoms of LI included recurrent bacterial infection, pulmonary infection, chronic sinusitis, and gastrointestinal infection (i.e., campylobacter, giardia). Cases (%), percent of individuals with symptom; all, individuals with any symptoms of the disease; *, Fisher’s exact test P<0.05.