Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/11740
Title: Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.
Authors: Klein, Karl Martin;Bromhead, Catherine J;Smith, Katherine R;O'Callaghan, Christopher J;Corcoran, Susan J;Heron, Sarah E;Iona, Xenia;Hodgson, Bree L;McMahon, Jacinta M;Lawrence, Kate M;Scheffer, Ingrid E;Dibbens, Leanne M;Bahlo, Melanie;Berkovic, Samuel F
Affiliation: Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Australia.
Issue Date: 16-Apr-2013
Citation: Neurology; 80(16): 1485-93
Abstract: To establish the occurrence of an autosomal dominant form of vasovagal syncope (VVS) by detailed phenotyping of multiplex families and identification of the causative locus.Patients with VVS and a family history of syncope were recruited. A standardized questionnaire was administered to all available family members and medical records were reviewed. Of 44 families recruited, 6 were suggestive of autosomal dominant inheritance. Genome-wide linkage was performed in family A using single nucleotide polymorphism genotyping microarrays. Targeted analysis of chromosome 15q26 with microsatellite markers was implemented in 4 families; 1 family was too small for analysis.Family A contained 30 affected individuals over 3 generations with a median onset of 8 to 9 years. The other families comprised 4 to 14 affected individuals. Affected individuals reported typical triggers of VVS (sight of blood, injury, medical procedures, prolonged standing, pain, frightening thoughts). The triggers varied considerably within the families. Significant linkage to chromosome 15q26 (logarithm of odds score 3.28) was found in family A. Linkage to this region was excluded in 2 medium-sized families but not in 2 smaller families. Sequence analysis of the candidate genes SLCO3A1, ST8SIA2, and NR2F2 within the linkage interval did not reveal any mutations.Familial VVS, inherited in an autosomal dominant manner, may not be rare and has similar features to sporadic VVS. The chromosome 15q26 locus in family A increases the susceptibility to VVS but does not predispose to a particular vasovagal trigger. Linkage analysis in the remaining families established likely genetic heterogeneity.
Internal ID Number: 23589636
URI: http://ahro.austin.org.au/austinjspui/handle/1/11740
DOI: 10.1212/WNL.0b013e31828cfad0
URL: http://www.ncbi.nlm.nih.gov/pubmed/23589636
Type: Journal Article
Subjects: Adolescent
Adult
Age of Onset
Child
Child, Preschool
Chromosomes, Human, Pair 15.genetics
DNA.genetics
Electrocardiography
Electroencephalography
Female
Gene Dosage
Genes, Dominant
Genetic Linkage
Genome-Wide Association Study
Haplotypes
Humans
Male
Microsatellite Repeats
Monte Carlo Method
Mutation.physiology
Pedigree
Phenotype
Syncope, Vasovagal.genetics.physiopathology.psychology
Young Adult
Appears in Collections:Journal articles

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