Linked Life Data

10491368

Source:http://linkedlifedata.com/resource/pubmed/id/10491368

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1999-10-18
pubmed:abstractText
Background-In long-QT syndrome (LQTS), heterozygosity for a mutation in 1 of the K(+) channel genes leads to prolongation of the cardiac action potential, because the aberrant protein exhibits "loss of function." HERG, which is involved in LQT2, is the gene encoding the rapid component of the delayed rectifier, I(Kr). Methods and Results-In a consanguineous family, a stillbirth was followed by the premature birth of a child in distress due to ventricular arrhythmia in the presence of QT prolongation. LQTS was diagnosed, beta-blocker therapy was begun, and a pacemaker was implanted. She developed well and remained symptom-free for 1.5 years. In the index patient, we identified a duplication of bp 558 to 600 in exon 4 of HERG on both alleles. This will result in a frameshift and a premature stop codon before the S1 domain of the HERG protein. Because it is present on both alleles, no functional I(Kr) is anticipated. The same mutation was found heterozygously in both parents and homozygously in the stillborn brother. Conclusions-It is concluded that absence of I(Kr) gives rise to a severe cardiac phenotype, with no indication of malfunction of any other organ.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1524-4539
pubmed:author
pubmed:issnType
Electronic
pubmed:day
21
pubmed:volume
100
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1264-7
pubmed:dateRevised
2008-10-28
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Homozygous premature truncation of the HERG protein : the human HERG knockout.
pubmed:affiliation
Departments of Pediatric Cardiology, University Hospital and Wilhelmina Children's Hospital (T.H., N.S.), Utrecht.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't