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Auteur L. ZHOU |
Documents disponibles écrits par cet auteur (2)
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AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission / C. M. YRIGOLLEN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission Type de document : Texte imprimé et/ou numérique Auteurs : C. M. YRIGOLLEN, Auteur ; L. MARTORELL, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; M. NAUDO, Auteur ; J. GENOVES, Auteur ; A. MURGIA, Auteur ; R. POLLI, Auteur ; L. ZHOU, Auteur ; D. BARBOUTH, Auteur ; A. RUPCHOCK, Auteur ; B. FINUCANE, Auteur ; G. J. LATHAM, Auteur ; A. HADD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; F. TASSONE, Auteur Article en page(s) : p.24 Langues : Anglais (eng) Mots-clés : AGG interruptions Fmr1 full mutation gray/intermediate allele premutation risk of expansion Index. décimale : PER Périodiques Résumé : BACKGROUND: The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission. METHODS: To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of FMR1 CGG repeat alleles, we assessed the outcomes of 108 intermediate (also named gray zone) and 710 premutation alleles that were transmitted from parent to child, and collected from four international clinical sites. We have used the results to revise our initial model that predicted the risk of a maternal premutation allele expanding to a full mutation during transmission and to test the effect of AGG interruptions on the magnitude of expanded allele instability of intermediate or premutation alleles that did not expand to a full mutation. RESULTS: Consistent with previous studies, the number of AGG triplets that interrupts the CGG repeat locus was found to influence the risk of allele instability, including expansion to a full mutation. The total length of the CGG repeat allele remains the best predictor of instability or expansion to a full mutation, but the number of AGG interruptions and, to a much lesser degree, maternal age are also factors when considering the risk of transmission of the premutation allele to a full mutation. CONCLUSIONS: Our findings demonstrate that a model with total CGG length, number of AGG interruptions, and maternal age is recommended for calculating the risk of expansion to a full mutation during maternal transmission. Taken together, the results of this study provide relevant information for the genetic counseling of female premutation carriers, and improve the current predictive models which calculate risk of expansion to a full mutation using only total CGG repeat length. En ligne : http://dx.doi.org/10.1186/1866-1955-6-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.24[article] AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission [Texte imprimé et/ou numérique] / C. M. YRIGOLLEN, Auteur ; L. MARTORELL, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; M. NAUDO, Auteur ; J. GENOVES, Auteur ; A. MURGIA, Auteur ; R. POLLI, Auteur ; L. ZHOU, Auteur ; D. BARBOUTH, Auteur ; A. RUPCHOCK, Auteur ; B. FINUCANE, Auteur ; G. J. LATHAM, Auteur ; A. HADD, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; F. TASSONE, Auteur . - p.24.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.24
Mots-clés : AGG interruptions Fmr1 full mutation gray/intermediate allele premutation risk of expansion Index. décimale : PER Périodiques Résumé : BACKGROUND: The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission. METHODS: To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of FMR1 CGG repeat alleles, we assessed the outcomes of 108 intermediate (also named gray zone) and 710 premutation alleles that were transmitted from parent to child, and collected from four international clinical sites. We have used the results to revise our initial model that predicted the risk of a maternal premutation allele expanding to a full mutation during transmission and to test the effect of AGG interruptions on the magnitude of expanded allele instability of intermediate or premutation alleles that did not expand to a full mutation. RESULTS: Consistent with previous studies, the number of AGG triplets that interrupts the CGG repeat locus was found to influence the risk of allele instability, including expansion to a full mutation. The total length of the CGG repeat allele remains the best predictor of instability or expansion to a full mutation, but the number of AGG interruptions and, to a much lesser degree, maternal age are also factors when considering the risk of transmission of the premutation allele to a full mutation. CONCLUSIONS: Our findings demonstrate that a model with total CGG length, number of AGG interruptions, and maternal age is recommended for calculating the risk of expansion to a full mutation during maternal transmission. Taken together, the results of this study provide relevant information for the genetic counseling of female premutation carriers, and improve the current predictive models which calculate risk of expansion to a full mutation using only total CGG repeat length. En ligne : http://dx.doi.org/10.1186/1866-1955-6-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 The autistic brain can process local but not global emotion regularities in facial and musical sequences / J. XU in Autism Research, 15-2 (February 2022)
[article]
Titre : The autistic brain can process local but not global emotion regularities in facial and musical sequences Type de document : Texte imprimé et/ou numérique Auteurs : J. XU, Auteur ; L. ZHOU, Auteur ; F. LIU, Auteur ; C. XUE, Auteur ; J. JIANG, Auteur ; C. JIANG, Auteur Article en page(s) : p.222-240 Langues : Anglais (eng) Mots-clés : autism spectrum disorder facial emotion global deficit musical emotion regularity Index. décimale : PER Périodiques Résumé : Whether autism spectrum disorder (ASD) is associated with a global processing deficit remains controversial. Global integration requires extraction of regularity across various timescales, yet little is known about how individuals with ASD process regularity at local (short timescale) versus global (long timescale) levels. To this end, we used event-related potentials to investigate whether individuals with ASD would show different neural responses to local (within trial) versus global (across trials) emotion regularities extracted from sequential facial expressions; and if so, whether this visual abnormality would generalize to the music (auditory) domain. Twenty individuals with ASD and 21 age- and IQ-matched individuals with typical development participated in this study. At an early processing stage, ASD participants exhibited preserved neural responses to violations of local emotion regularity for both faces and music. At a later stage, however, there was an absence of neural responses in ASD to violations of global emotion regularity for both faces and music. These findings suggest that the autistic brain responses to emotion regularity are modulated by the timescale of sequential stimuli, and provide insight into the neural mechanisms underlying emotional processing in ASD. En ligne : http://dx.doi.org/10.1002/aur.2635 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450
in Autism Research > 15-2 (February 2022) . - p.222-240[article] The autistic brain can process local but not global emotion regularities in facial and musical sequences [Texte imprimé et/ou numérique] / J. XU, Auteur ; L. ZHOU, Auteur ; F. LIU, Auteur ; C. XUE, Auteur ; J. JIANG, Auteur ; C. JIANG, Auteur . - p.222-240.
Langues : Anglais (eng)
in Autism Research > 15-2 (February 2022) . - p.222-240
Mots-clés : autism spectrum disorder facial emotion global deficit musical emotion regularity Index. décimale : PER Périodiques Résumé : Whether autism spectrum disorder (ASD) is associated with a global processing deficit remains controversial. Global integration requires extraction of regularity across various timescales, yet little is known about how individuals with ASD process regularity at local (short timescale) versus global (long timescale) levels. To this end, we used event-related potentials to investigate whether individuals with ASD would show different neural responses to local (within trial) versus global (across trials) emotion regularities extracted from sequential facial expressions; and if so, whether this visual abnormality would generalize to the music (auditory) domain. Twenty individuals with ASD and 21 age- and IQ-matched individuals with typical development participated in this study. At an early processing stage, ASD participants exhibited preserved neural responses to violations of local emotion regularity for both faces and music. At a later stage, however, there was an absence of neural responses in ASD to violations of global emotion regularity for both faces and music. These findings suggest that the autistic brain responses to emotion regularity are modulated by the timescale of sequential stimuli, and provide insight into the neural mechanisms underlying emotional processing in ASD. En ligne : http://dx.doi.org/10.1002/aur.2635 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450