Atrial fibrillation (AF) is the most prevalent type of cardiac arrhythmia and is commonly associated with other cardiovascular disorders, but in up to 30% of cases there is no evidence of overt heart disease. This condition is called lone or idiopathic AF. About 15% of lone AF presents as familial disorder (PMID:24333117, 23551519). Mutations in the GJA5 gene are associated with early-onset atrial fibrillation (PMID:23040431, 20818502).
ATFB11 is a sub-type of familial atrial fibrillation. For symptom annotation please refer to familial atrial fibrillation.
Gollob et al. (2006) presented evidence that tissue-specific mutations in the GJA5 gene may predispose the atria to fibrillation. They sequenced the GJA5 gene from genomic DNA isolated from resected cardiac tissue and peripheral lymphocytes from 15 patients ... Gollob et al. (2006) presented evidence that tissue-specific mutations in the GJA5 gene may predispose the atria to fibrillation. They sequenced the GJA5 gene from genomic DNA isolated from resected cardiac tissue and peripheral lymphocytes from 15 patients with idiopathic atrial fibrillation. Four novel heterozygous missense mutations (see, e.g., 121013.0001 and 121013.0002) were identified in 4 of the 15 patients. In 3 patients, the mutations were found in cardiac tissue specimens but not in lymphocytes, indicating a somatic source of the genetic defects. In the fourth patient, the mutation was detected in both cardiac tissue and lymphocytes, suggesting a germline origin. Yang et al. (2010) analyzed the GJA5 gene in 126 unrelated Chinese probands with atrial fibrillation (AF) and identified a heterozygous nonsense mutation (121013.0003) in a 64-year-old female patient who was diagnosed with paroxysmal AF at 32 years of age, with episodes occurring as frequently as once a week, who also had right bundle branch block on electrocardiography. The mutation was detected in 6 additional affected family members, but was not found in 6 unaffected family members or in 200 ethnically matched controls. Yang et al. (2010) analyzed the GJA5 gene in 218 unrelated Chinese probands with AF and identified 3 heterozygous missense mutations in 3 probands (121013.0004-121013.0006, respectively). The mutations segregated with disease in all 3 families and were not found in 200 ethnically matched controls. Wirka et al. (2011) tested GJA5 SNPs in promoter 'A' (dbSNP rs35594137; -44G-A) and promoter 'B' (dbSNP rs10465885; 26A-G) for association with early-onset lone AF (onset at less than 60 years of age) in 384 cases and 3,010 controls and found that the promoter B SNP dbSNP rs10465885 was significantly associated with early-onset lone AF (odds ratio, 1.18; p = 0.046); metaanalysis of 2 additional early-onset lone AF case-control cohorts confirmed the association (odds ratio, 1.16; p = 0.022) with dbSNP rs10465885.
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