2013
DOI: 10.1111/cge.12300
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De novo mutation in the KCNQ1 gene causal to Jervell and Lange‐Nielsen syndrome

Abstract: 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.… Show more

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Cited by 7 publications
(3 citation statements)
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References 26 publications
(42 reference statements)
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“…Genetic investigation showed compound heterozygote KCNQ1 mutations, c.820_830del/c.1251+1G>T (Table ). Subsequent investigation revealed that the c.820_830del mutation was de novo . RNA analysis of lymphocytes showed that exon‐9 was skipped in one allele and the second allele lacked the c.820 to c.830 (data not shown).…”
Section: Resultsmentioning
confidence: 98%
“…Genetic investigation showed compound heterozygote KCNQ1 mutations, c.820_830del/c.1251+1G>T (Table ). Subsequent investigation revealed that the c.820_830del mutation was de novo . RNA analysis of lymphocytes showed that exon‐9 was skipped in one allele and the second allele lacked the c.820 to c.830 (data not shown).…”
Section: Resultsmentioning
confidence: 98%
“…Specialized cardiogenetic centers should take the initiative to search for the genetic defects, mutations, and perform genotype-phenotype studies in all forms of hereditary arrhythmias. It also should be kept in consideration that not all genetic arrhythmias would have a family history, as in many cases arrhythmia causal mutation are de novo in origin, i.e., the proband is the first patient in that family with the mutation and he/she is the source to transmit the mutation in downstream generations (110, 111). Due to the very high rate of consanguineous marriages in Saudi Arabia, we expect a lot more founder mutations exert a crucial role in congenital arrhythmias in this country.…”
Section: Lqts: Saudi Perspectivementioning
confidence: 99%
“…Therefore, a precise genotype-phenotype correlation in LQT1 and JLNS1 is not established, which complicates both genetic counseling and clinical risk evaluation in carriers [9, 1216]. A frameshift variant (NM_000218.2[KCNQ1]:c.567dupG [17]) is reported to cause not only JLNS1 when homozygous, but also causes severe LQT1 when heterozygous.…”
Section: Introductionmentioning
confidence: 99%