Fig. 1: Clinical and genetic evaluation of the AF phenotype.
From: The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele
a Multi-generational family pedigree with young-onset atrial fibrillation phenotype. Color coded legend describes clinical phenotypes of interest. At-risk carrier refers to younger aged individuals who may yet develop young-onset AF symptoms. b Circular pedigree constructed from UPDB data showing 2926 offspring from the founder couple, with successive generations depicted on circular rings. The red lines indicate the arc of disease transmission across generations and denote known carriers of the risk allele, obligate carriers and subjects manifesting young onset AF, LQTS or fetal bradycardia phenotypes. c pVAAST identifies KCNQ1 as the likely AF causative gene. Manhattan plot with chromosome location on x-axis and -log10 pVAAST p-value on y-axis, generated by pVAAST analysis of WES data from 5 young-onset AF individuals. Each circle indicates an individual gene. Note the ‘comet tail’ of flanking genes beneath KCNQ1; the scores of these genes are elevated because they contain sequence variants linked to the KCNQ1 R231H allele.
