Romano-ward long QT syndrome: Identification of a HERG mutation in a Taiwanese kindred

Guey Jen Lee-Chen, Der Yan Tai, Chu Chiu-Hsin, Yen Ni Teng

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Romano-Ward syndrome is an autosomal dominant long-QT syndrome (LQTS) that predisposes affected individuals to sudden death from tachyarrhythmias. We investigated the molecular basis of LQTS in a Taiwanese kindred. Clinical and genetic analyses revealed that a mutation was linked to the human ether- a-go-go-related gene (HERG). The coding sequences and exon-intron borders of HERG were amplified by means of polymerase chain reaction and subjected to single-strand conformation polymorphism (SSCP) analysis. An exon with an aberrant SSCP pattern was cloned and sequenced to study the molecular lesion. A C→T transition in codon 614, leading to substitution of a valine for an alanine residue in the pore region of the HERG protein, was identified. Analysis with Bsp1286I endonuclease digestion showed the mutation to be present in all affected family members. Given that an unaffected paternal uncle had inherited the same allele from the grandfather as the proband's father, a de novo mutation had apparently occurred in the father and was transmitted to his offspring. In addition to offering presymptomatic genetic diagnosis, identification of the disease-causing mutation may suggest new therapeutic approaches for treatment and prevention of this cardiovascular disease.

Original languageEnglish
Pages (from-to)649-652
Number of pages4
JournalJournal of the Formosan Medical Association
Volume98
Issue number9
Publication statusPublished - 1999 Sep

Fingerprint

Long QT Syndrome
Mutation
Fathers
Exons
Romano-Ward Syndrome
Endonucleases
Valine
Sudden Death
Tachycardia
Codon
Alanine
Ether
Introns
Digestion
Cardiovascular Diseases
Alleles
Polymerase Chain Reaction
Therapeutics
Genes
Proteins

Keywords

  • Arrhythmia
  • Genetics
  • HERG gene
  • Long-QT syndrome
  • Mutation screening

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Romano-ward long QT syndrome : Identification of a HERG mutation in a Taiwanese kindred. / Lee-Chen, Guey Jen; Tai, Der Yan; Chiu-Hsin, Chu; Teng, Yen Ni.

In: Journal of the Formosan Medical Association, Vol. 98, No. 9, 09.1999, p. 649-652.

Research output: Contribution to journalArticle

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