BACKGROUND Studies of ≤15 atrial fibrillation (AF) patients have identified atrial-specific mutations within connexin genes, suggesting that somatic mutations may account for sporadic cases of the arrhythmia. We sought to identify atrial somatic mutations among patients with and without AF using targeted deep next-generation sequencing of 560 genes, including genetic culprits implicated in AF, ...

Abstract Funding Acknowledgements Type of funding sources: None. Background Idiopathic ventricular fibrillation (IVF) accounts for up to 44% sudden cardiac deaths (SCD); the diagnostic yield genetic testing in probands is reported as low 3%. Purpose The aim this study describe results IVF from a high-volume center. Methods All consecutive patients with and were retrospectively analyzed. was dia...

Objective To characterize the cardiac phenotype associated with novel pathogenic variant (c.1526del) of LMNA gene, which we identified in a large, six-generation family. Methods and Results A family tree was constructed. The clinical data living deceased members were collected. DNA samples from 7 analyzed for mutations using whole-exome high-throughput sequencing technology. presentation carrie...

Case presentation: 1: A boy with developmental delay and congenital macrocephaly, evolving dysphagia airway hypotonia. Complete exome sequencing was performed detection of pathogenic variant in the PTEN gene (c.737C>T). 2: Premature boy, delayed development departure, macrocephaly ephelides foreskin. He developed nodular hyperplasia ileum painful amplification syndrome pharmacoresistant pain. S...

Background: Pontocerebellar hypoplasia is an autosomal recessive and neurodegenerative disorder divided into sixteen subtypes. type 2B (PCH2B) shows microcephaly combined with epilepsy extrapyramidal dyskinesia chorea due to different homozygous or compound heterozygous pathogenic mutations in the TSEN2 gene. Objectives: This study was aimed find mutation responsible for pontocerebellar two fam...

BACKGROUND As DNA sequencing costs decline, genetic testing options have expanded. Whole exome sequencing and whole genome sequencing (WGS) are entering clinical use, posing questions about their incremental value compared with disease-specific multigene panels that have been the cornerstone of genetic testing. METHODS AND RESULTS Forty-one patients with hypertrophic cardiomyopathy who had un...

PURPOSE We examined transforming growth factor beta-induced (TGFBI) gene mutations in a family with lattice corneal dystrophy type I. METHODS The proband was one of the offspring of a consanguineous marriage; 4 affected and 3 unaffected individuals of the family were investigated. Genomic DNA of each case was extracted and used for polymerase chain reaction (PCR). The exon 4, 11, and 12 of th...

BACKGROUND Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis. Although several intronic nucleotide variants in these genes have been detected, all of...