Autosomal dominant vasovagal syncope Clinical features and linkage to chromosome 15q26
Karl Martin Klein, Catherine J Bromhead, Katherine R Smith, Christopher J O'Callaghan, Susan J Corcoran, Sarah E Heron, Xenia Iona, Bree L Hodgson, Jacinta M McMahon, Kate M Lawrence, Ingrid E Scheffer, Leanne M Dibbens, Melanie Bahlo, Samuel F Berkovic
NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2013
OBJECTIVE: 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. METHODS: 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. RESULTS..View full abstract
Awarded by Deutsche Forschungsgemeinschaft
Awarded by NHMRC Practitioner Fellowship
Supported by a project grant of the National Health and Medical Research Council (NHMRC) of Australia, a research fellowship from the Deutsche Forschungsgemeinschaft (KL 2254/1-1) to K.M.K., a scholarship from The University of Melbourne to K.M.K., an Australian Research Council Future Fellowship to M.B., an NHMRC Practitioner Fellowship to I.E.S., and an NHMRC Australia Fellowship to S.F.B.M. Klein was funded by a research fellowship from the Deutsche Forschungsgemeinschaft (KL 2254/1-1) and a scholarship from The University of Melbourne. C. Bromhead, K. Smith, and C. O'Callaghan report no disclosures. S. Corcoran has received speaker honoraria from Medtronic. S. Heron, X. Iona, B. Hodgson, J. McMahon, and K. Lawrence report no disclosures. I. Scheffer was funded by an NHMRC Practitioner Fellowship. She may accrue future revenue on pending patent WO61/010176 (filed: 2008): Therapeutic Compound; has received speaker honoraria from UCB and Athena Diagnostics and has received travel funding from UCB, Biocodex, and GlaxoSmithKline. L. Dibbens receives/has received research support from the National Health and Medical Research Council of Australia. M. Bahlo was funded by an Australian Research Council Future Fellowship; has received consultancy fees from the MacTel Consortium; may accrue future revenue on pending patent 2010-108-PRO-O: "Prognostic method using combination of HLA-C2 homozygosity and rs7248668 allele of IL28B"; and receives/has received research support from the National Health and Medical Research Council of Australia and the Deutsche Forschungsgemeinschaft. S. Berkovic was funded by an NHMRC Australia Fellowship has served on scientific advisory boards for UCB and Janssen-Cilag; may accrue future revenue on pending patent WO61/010176 (filed: 2008): Therapeutic Compound; has received speaker honoraria from UCB, has received unrestricted educational grants from UCB, Novartis Pharmaceuticals, Janssen-Cilag, and Sanofi-Aventis. Go to Neurology.org for full disclosures.