Disease relevance of KCND3

• This information should facilitate the systematic screening of KCND2 and KCND3 exons for mutations in (inherited) arrhythmia syndromes, such as LQTS and Brugada [1].
• CONCLUSION: The data suggest that mutations in KCND2 and KCND3 are not a frequent cause of long QT syndrome [2].

High impact information on KCND3

• PharmGKB Submission Update: VII. PAT Submissions of Genetic Variation in KCND3 to the PharmGKB Network [3].
• OBJECTIVES: The function of Kv4.3 (KCND3) channels, which underlie the transient outward current I(to) in human heart, can be modulated by several accessory subunits such as KChIP2 and KCNE1-KCNE5 [4].
• The KCND3 gene contains an additional exon of 57 bp, which is not present in the other two KCND genes and gives rise to the C-terminal splice KCND3L variant with an insertion of 19 amino acids [5].
• We therefore resolved the intron-exon boundaries and flanking intronic sequences and found that KCND2 consisted of six exons and KCND3 of seven exons [1].
• Subsequently, we designed the oligonucleotide primers needed for amplifying the coding exons of both KCND2 and KCND3 and established conditions for polymerase chain reaction amplification of each exon from genomic DNA [1].

Biological context of KCND3

• RESULTS: Seven single nucleotide polymorphismsm (SNPs) were found, two exonic SNPs in KCND2 and three exonic and two intronic in KCND3 [2].
• METHODS: KCND2 and KCND3 were examined for mutations using single-strand conformation polymorphism (SSCP) analysis in 43 unrelated LQTS patients, where mutations in the coding regions of known LQTS genes had been excluded [2].

References