title: Molecular diagnosis in a child with sudden infant death syndrome.
abstract: Although sudden infant death syndrome (SIDS) has been associated with long QT syndrome-a genetic disorder that causes arrhythmia-a causal link has not been shown. We screened genomic DNA from a child who died of SIDS and identified a de-novo mutation in KVLQT1, the gene most frequently associated with long QT syndrome. This mutation (C350T) had already been identified in an unrelated family that was affected by long QT syndrome. These results confirm the hypothesis that some deaths from SIDS are caused by long QT syndrome and support implementation of neonatal electrocardiographic screening.
authors.forename: P J
authors.initials: PJ
authors.lastname: Schwartz
authors.forename: S G
authors.initials: SG
authors.lastname: Priori
authors.forename: R
authors.initials: R
authors.lastname: Bloise
authors.forename: C
authors.initials: C
authors.lastname: Napolitano
authors.forename: E
authors.initials: E
authors.lastname: Ronchetti
authors.forename: A
authors.initials: A
authors.lastname: Piccinini
authors.forename: C
authors.initials: C
authors.lastname: Goj
authors.forename: G
authors.initials: G
authors.lastname: Breithardt
authors.forename: E
authors.initials: E
authors.lastname: Schulze-Bahr
authors.forename: H
authors.initials: H
authors.lastname: Wedekind
authors.forename: J
authors.initials: J
authors.lastname: Nastoli
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D007223:Infant; D007558:Italy; D008133:Long QT Syndrome / Q000150:complications* / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D013398:Sudden Infant Death / Q000175:diagnosis / Q000209:etiology*