De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.
PMID 24125535 | DOI 10.1111/cge.12300 · Clinical genetics · 2014 · View on PubMed ↗
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically characterized by severe cardiac arrhythmias [due to prolonged QTc interval in electrocardiogram (ECG)] and bilateral sensory neural deafness. Molecular defects causal to JLNS are either homozygous or compound heterozygous mutations, predominantly in the KCNQ1 gene and occasionally in the KCNE1 gene. As the molecular defect is bi-allelic, JLNS patients inherit one pathogenic mutation causal to the disorder from each parent. In this report, we show for the first time that such a disorder could also occur due to a spontaneous de novo mutation in the affected individual, not inherited from the parent, which makes this case unique unlike the previously reported JLNS cases.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | KCNE1 | “Molecular defects causal to JLNS are either homozygous or compound heterozygous mutations, predominantly in the KCNQ1 gene and occasionally in the KCNE1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically characterized by severe cardiac arrhythmias [due to prolonged QTc interval in electrocardiogram (ECG)] and bilateral sensory neural deafness.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | arrhythmia | “Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically characterized by severe cardiac arrhythmias [due to prolonged QTc interval in electrocardiogram (ECG)] and bilateral sensory neural deafness.” | 0.93 | phenotype_alias_lexicon_v2 |