title: Novel mutations of KCNQ1 in Long QT syndrome.
abstract: BACKGROUND
  Autosomal recessive Long QT syndrome is characterized by prolonged QTc along with congenital bilateral deafness depends on mutations in K(+) channel genes. A family of a Long QT syndrome proband from India has been identified with novel indel variations.
  
  
  METHODS
  The molecular study of the proband revealed 4 novel indel variations in KCNQ1. In-silico analysis revealed the intronic variations has led to a change in the secondary structure of mRNA and splice site variations. The exonic variations leads to frameshift mutations. DNA analysis of the available family members revealed a carrier status.
  
  
  CONCLUSIONS
  It is thus predicted that the variations may lead to a change in the position of the splicing enhancer/inhibitor in KCNQ1 leading to the formation of a truncated S2-S3 fragment of KCNQ1 transmembrane protein in cardiac cells as well as epithelial cells of inner ear leading to deafness and aberrant repolarization causing prolonged QTc.
authors.affiliation: Dept. of Genetics, University College of Science, Osmania University, Hyderabad 500007, Andhra Pradesh, India.
authors.forename: Sameera F
authors.initials: SF
authors.lastname: Qureshi
authors.forename: Altaf
authors.initials: A
authors.lastname: Ali
authors.forename: Venkateshwari
authors.initials: V
authors.lastname: Ananthapur
authors.forename: M P
authors.initials: MP
authors.lastname: Jayakrishnan
authors.forename: Narasimhan
authors.initials: N
authors.lastname: Calambur
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nallari
mesh_terms: D002648:Child; D004247:DNA / Q000032:analysis / Q000235:genetics; D004562:Electrocardiography / Q000379:methods; D016368:Frameshift Mutation / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D016678:Genome; D006579:Heterozygote; D006801:Humans; D007194:India; D029593:Jervell-Lange Nielsen Syndrome / Q000175:diagnosis / Q000235:genetics*; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008967:Molecular Biology; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D012313:RNA / Q000235:genetics; D035583:Rare Diseases
chemical_list: D051657:KCNQ1 Potassium Channel; D012313:RNA; D004247:DNA
keywords: 3D KCNQ1 structure; Family study; JLN syndrome; Long QT syndrome; Novel mutations