HCN4 HCN4 Gene Variations in Sudden Unexplained Nocturnal Death Syndrome in the Southern Han Chinese Population ,

摘要

Abstract Sudden unexplained nocturnal death syndrome (SUNDS) is widely considered to be related to hereditary fatal arrhythmias. Hyperpolarization‐activated cyclic nucleotide‐gated channel 4 (HCN4) channels are widely distributed in sinus myocytes and play a profound role in generating pacemaker electro‐activity in cardiomyocytes. In the present study, the potential correlation between HCN4 gene variations and the occurrence of SUNDS was investigated. Genomic DNA was extracted from blood samples of both 119 unrelated SUNDS patients and 184 healthy individuals and screened for candidate HCN4 gene variants. One missense heterozygous variant c.1578CT (Ala195Val) and four synonymous heterozygous variants c.1552CT, c.2833CT, c.3823CT, and c.4189CA were discovered in the SUNDS cases. The missense variant c.1578CT (Ala195Val) was absent in 163 recruited controls and 105 persons of the Southern Han Chinese population, had in‐silico prediction indications as damaging, and was reported prevalent in sudden infant death, and is thus likely to be involved in SUNDS.