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Auteur Johnna EVANS |
Documents disponibles écrits par cet auteur (1)
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Contactin 4 as an autism susceptibility locus / Catherine E. COTTRELL in Autism Research, 4-3 (June 2011)
[article]
Titre : Contactin 4 as an autism susceptibility locus Type de document : Texte imprimé et/ou numérique Auteurs : Catherine E. COTTRELL, Auteur ; Natalie BIR, Auteur ; Elizabeth A. VARGA, Auteur ; Carlos E. ALVAREZ, Auteur ; Samuel BOUYAIN, Auteur ; Randall ZERNZACH, Auteur ; Devon L. THRUSH, Auteur ; Johnna EVANS, Auteur ; Michael TRIMARCHI, Auteur ; Eric BUTTER, Auteur ; David CUNNINGHAM, Auteur ; Julie M. GASTIER-FOSTER, Auteur ; Kim L. MCBRIDE, Auteur ; Gail E. HERMAN, Auteur Année de publication : 2011 Article en page(s) : p.189-199 Langues : Anglais (eng) Mots-clés : contactin 4 autism autism spectrum disorder 3p26 deletion contactins susceptibility locus Index. décimale : PER Périodiques Résumé : Structural and sequence variation have been described in several members of the contactin (CNTN) and contactin-associated protein (CNTNAP) gene families in association with neurodevelopmental disorders, including autism. Using array comparative genome hybridization (CGH), we identified a maternally inherited ∼535 kb deletion at 3p26.3 encompassing the 5′ end of the contactin 4 gene (CNTN4) in a patient with autism. Based on this finding and previous reports implicating genomic rearrangements of CNTN4 in autism spectrum disorders (ASDs) and 3p− microdeletion syndrome, we undertook sequencing of the coding regions of the gene in a local ASD cohort in comparison with a set of controls. Unique missense variants were identified in 4 of 75 unrelated individuals with ASD, as well as in 1 of 107 controls. All of the amino acid substitutions were nonsynonomous, occurred at evolutionarily conserved positions, and were, thus, felt likely to be deleterious. However, these data did not reach statistical significance, nor did the variants segregate with disease within all of the ASD families. Finally, there was no detectable difference in binding of two of the variants to the interacting protein PTPRG in vitro. Thus, additional larger studies will be necessary to determine whether CNTN4 functions as an autism susceptibility locus in combination with other genetic and/or environmental factors. En ligne : http://dx.doi.org/10.1002/aur.184 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127
in Autism Research > 4-3 (June 2011) . - p.189-199[article] Contactin 4 as an autism susceptibility locus [Texte imprimé et/ou numérique] / Catherine E. COTTRELL, Auteur ; Natalie BIR, Auteur ; Elizabeth A. VARGA, Auteur ; Carlos E. ALVAREZ, Auteur ; Samuel BOUYAIN, Auteur ; Randall ZERNZACH, Auteur ; Devon L. THRUSH, Auteur ; Johnna EVANS, Auteur ; Michael TRIMARCHI, Auteur ; Eric BUTTER, Auteur ; David CUNNINGHAM, Auteur ; Julie M. GASTIER-FOSTER, Auteur ; Kim L. MCBRIDE, Auteur ; Gail E. HERMAN, Auteur . - 2011 . - p.189-199.
Langues : Anglais (eng)
in Autism Research > 4-3 (June 2011) . - p.189-199
Mots-clés : contactin 4 autism autism spectrum disorder 3p26 deletion contactins susceptibility locus Index. décimale : PER Périodiques Résumé : Structural and sequence variation have been described in several members of the contactin (CNTN) and contactin-associated protein (CNTNAP) gene families in association with neurodevelopmental disorders, including autism. Using array comparative genome hybridization (CGH), we identified a maternally inherited ∼535 kb deletion at 3p26.3 encompassing the 5′ end of the contactin 4 gene (CNTN4) in a patient with autism. Based on this finding and previous reports implicating genomic rearrangements of CNTN4 in autism spectrum disorders (ASDs) and 3p− microdeletion syndrome, we undertook sequencing of the coding regions of the gene in a local ASD cohort in comparison with a set of controls. Unique missense variants were identified in 4 of 75 unrelated individuals with ASD, as well as in 1 of 107 controls. All of the amino acid substitutions were nonsynonomous, occurred at evolutionarily conserved positions, and were, thus, felt likely to be deleterious. However, these data did not reach statistical significance, nor did the variants segregate with disease within all of the ASD families. Finally, there was no detectable difference in binding of two of the variants to the interacting protein PTPRG in vitro. Thus, additional larger studies will be necessary to determine whether CNTN4 functions as an autism susceptibility locus in combination with other genetic and/or environmental factors. En ligne : http://dx.doi.org/10.1002/aur.184 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127