UNASSIGNED: Background. @entity6015 is characterized by blockage of electrical impulses from the atrioventricular node (AV node) to the ventricles. This blockage can be caused by ion channel impairment that is the result of genetic variation. This study aimed to investigate the possible causative variants in a Thai family with complete @entity616 by using whole exome sequencing. Methods. Genomic DNA was collected from a family consisting of five family members in three generations in which one of three @entity1 in generation III had complete @entity616 . Whole exome sequencing was performed on one complete @entity616 affected @entity1 and one unaffected sibling. Bioinformatics was used to identify annotated and filtered variants. Candidate variants were validated and the segregation analysis of other family members was performed. Results. This study identified compound heterozygous variants, @entity69026 and @entity69027 , in the @entity1788 gene and @entity69028 in the @entity10484 gene. Conclusions. Compound heterozygous variants in the @entity1788 gene were found in the complete @entity616 affected @entity1 but these two variants were found only in the this affected sibling and were not found in other unaffected family members. Hence, these variants in the @entity1788 gene were the most possible disease-causing variants in this family.

Exome Sequencing Identifies Compound Heterozygous Mutations in XXXX Associated with @entity6015 in the Thai Population.

@entity1 :: ('9606', 'Species') :: ['children', 'child'] @entity69028 :: ('c|SUB|C|28730|T', 'DNAMutation') :: ['c.28730C>T'] @entity1788 :: ('6331', 'Gene') :: ['SCN5A'] @entity69027 :: ('c|SUB|G|3832|A', 'DNAMutation') :: ['c.3832G>A'] @entity10484 :: ('7273', 'Gene') :: ['TTN'] @entity69026 :: ('c|SUB|G|101|A', 'DNAMutation') :: ['c.101G>A'] @entity6015 :: ('MESH:C535758', 'Disease') :: ['Congenital heart block'] @entity616 :: ('MESH:D006327', 'Disease') :: ['heart block']
@entity1788 :: (6331,Gene) :: ['SCN5A']
