Abstract
ABSTRACT The Mendelian disease genes’ hunting is our goal to discover the nature of the illness and try to find a way to cure it. Exome sequencing is a powerful tool to characterize DNA sequences surrounding target regions at a much lower cost compared to the whole genome sequencing technique. The Single Nucleotide Variation (SNV) and insertion/deletion (Indel) variants called with the sequence alignment tools and variants calling tools are big raw data for the analysis. We use the pedigree-genotype method to investigate 3 generations of a Chinese family with SSS that was characterized by sinus arrest, atrial fibrillation and atrioventricular conduction disturbance. We narrowed down the variants to a small set with the pedigree-genotype method. Following with the annotation and the polymerase chain reaction (PCR) verification, we identified a novel SNV located in LMNA gene, which encodes the inner nuclear membrane protein lamin A/C. Structural modeling predicts the mutation may affect LMNA function.