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Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13–14 by Nichole L. Taske; Magali P. Williamson; Andrew Makoff; Louise Bate; David Curtis; Michael Kerr; Marianne J. Kjeldsen; Kiang An Pang; Anders Sundqvist; Mogens L. Friis; David Chadwick; Alan Richens; Athanasios Covanis; Manuela Santos; Alexis Arzimanoglou; Chrysostomos P. Panayiotopoulos; William P. Whitehouse; Michele Rees; R.Mark Gardiner is a Medicine article available to read on EtoBox.

What is Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13–14 about?

A previous study of 34 nuclear pedigrees segregating juvenile myoclonic epilepsy (JME) gave significant evidence of linkage with heterogeneity to marker loci on chromosome 15q13-14 close to the candidate gene CHRNA7 (Hum. Mol. Genet. 6 (1997) 1329). The aim of this work was to further evaluate the putative aetiological role of CHRNA7 in JME within the 34 families originally described, and to assess the contribution of this locus to a broader phenotype of idiopathic generalised epilepsy (IGE). Multipoint linkage analysis and intrafamilial association studies were performed with microsatellite markers that encompass both CHRNA7 and its partial duplication (CHRFAM7A). A maximum HLOD of 3.45 [h= 0.58; (Zall =2.88, P= 0.0008)] was observed 8 cM distal to D15S1360, a CHRNA7 intragenic marker. Significant exclusion lod scores were obtained across the region in 12 mixed phenotype JME/IGE families. Mutation screening of the CHRNA7 gene (and consequently exons 5 -10 of CHRFAM7A) and its putative promoter sequence identified a total of 13 sequence variants across 23 of 34 JME-affected families. Two variants (c.1354G \ A and c.1466C \T) are predicted to result in amino acid changes and one (IV

Who reads Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13–14?

Author

Nichole L. Taske; Magali P. Williamson; Andrew Makoff; Louise Bate; David Curtis; Michael Kerr; Marianne J. Kjeldsen; Kiang An Pang; Anders Sundqvist; Mogens L. Friis; David Chadwick; Alan Richens; Athanasios Covanis; Manuela Santos; Alexis Arzimanoglou; Chrysostomos P. Panayiotopoulos; William P. Whitehouse; Michele Rees; R.Mark Gardiner

Publisher

Elsevier Science; Elsevier ; Elsevier BV (ISSN 0920-1211)

Published

2002

Language

EN

Field

Medicine (Health Sciences)