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Genomic studies in fragile X premutation carriers / R. LOZANO in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : Genomic studies in fragile X premutation carriers Type de document : Texte imprimé et/ou numérique Auteurs : R. LOZANO, Auteur ; Randi J. HAGERMAN, Auteur ; M. DUYZEND, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; E. E. EICHLER, Auteur ; F. TASSONE, Auteur Article en page(s) : p.27 Langues : Anglais (eng) Mots-clés : Asd Autism FMR1 gene Neurodevelopmental disorders Neurological disorders Premutation Second hit Index. décimale : PER Périodiques Résumé : BACKGROUND: The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). The behavior/psychiatric and other neurological manifestations remain to be specified as well as the molecular mechanisms that will explain the phenotypic variability observed in individuals with the FMR1 premutation. METHODS: Here we describe a small pilot study of copy number variants (CNVs) in 56 participants with a premutation ranging from 55 to 192 repeats. The participants were divided into four different clinical groups for the analysis: those with behavioral problems but no autism spectrum disorder (ASD); those with ASD but without neurological problems; those with ASD and neurological problems including seizures; and those with neurological problems without ASD. RESULTS: We found 12 rare CNVs (eight duplications and four deletions) in 11 cases (19.6%) that were not found in approximately 8,000 controls. Three of them were at 10q26 and two at Xp22.3, with small areas of overlap. The CNVs were more commonly identified in individuals with neurological involvement and ASD. CONCLUSIONS: The frequencies were not statistically significant across the groups. There were no significant differences in the psychometric and behavior scores among all groups. Further studies are necessary to determine the frequency of second genetic hits in individuals with the FMR1 premutation; however, these preliminary results suggest that genomic studies can be useful in understanding the molecular etiology of clinical involvement in premutation carriers with ASD and neurological involvement. En ligne : http://dx.doi.org/10.1186/1866-1955-6-27 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.27[article] Genomic studies in fragile X premutation carriers [Texte imprimé et/ou numérique] / R. LOZANO, Auteur ; Randi J. HAGERMAN, Auteur ; M. DUYZEND, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; E. E. EICHLER, Auteur ; F. TASSONE, Auteur . - p.27.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.27
Mots-clés : Asd Autism FMR1 gene Neurodevelopmental disorders Neurological disorders Premutation Second hit Index. décimale : PER Périodiques Résumé : BACKGROUND: The FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The clinical involvement has been well characterized for fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). The behavior/psychiatric and other neurological manifestations remain to be specified as well as the molecular mechanisms that will explain the phenotypic variability observed in individuals with the FMR1 premutation. METHODS: Here we describe a small pilot study of copy number variants (CNVs) in 56 participants with a premutation ranging from 55 to 192 repeats. The participants were divided into four different clinical groups for the analysis: those with behavioral problems but no autism spectrum disorder (ASD); those with ASD but without neurological problems; those with ASD and neurological problems including seizures; and those with neurological problems without ASD. RESULTS: We found 12 rare CNVs (eight duplications and four deletions) in 11 cases (19.6%) that were not found in approximately 8,000 controls. Three of them were at 10q26 and two at Xp22.3, with small areas of overlap. The CNVs were more commonly identified in individuals with neurological involvement and ASD. CONCLUSIONS: The frequencies were not statistically significant across the groups. There were no significant differences in the psychometric and behavior scores among all groups. Further studies are necessary to determine the frequency of second genetic hits in individuals with the FMR1 premutation; however, these preliminary results suggest that genomic studies can be useful in understanding the molecular etiology of clinical involvement in premutation carriers with ASD and neurological involvement. En ligne : http://dx.doi.org/10.1186/1866-1955-6-27 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 Visual motion processing deficits in infants with the fragile X premutation / P. K. GALLEGO in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : Visual motion processing deficits in infants with the fragile X premutation Type de document : Texte imprimé et/ou numérique Auteurs : P. K. GALLEGO, Auteur ; J. L. BURRIS, Auteur ; S. M. RIVERA, Auteur Article en page(s) : p.29 Langues : Anglais (eng) Mots-clés : Contrast detection Fragile X syndrome Premutation Visual processing deficits Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) results from a trinucleotide repeat expansion (full mutation >200 cytosine-guanine-guanine (CGG) repeats) in the FMR1 gene, leading to a reduction or absence of the gene's protein product, fragile X mental retardation protein (FMRP), ultimately causing cognitive and behavioral impairments that are characteristic of the syndrome. In our previous work with infants and toddlers with FXS, we have been able to describe much about their cognitive and visual processing abilities. In light of recent work on the mild cognitive deficits and functional and structural brain differences that are present in adults with the fragile X (FX) premutation, in the present study we examined whether some of the low-level visual processing deficits we have observed in infants with FXS would also be present in infants with the FX premutation (55-200 CGG repeats). METHODS: We chose a contrast detection task using second-order motion stimuli on which infants with FXS previously showed significantly increased detection thresholds (Vision Res 48:1471-1478, 2008). Critically, we also included a developmental delay comparison group of infants with Down syndrome (DS), who were matched to infants with FXS on both chronological and mental age, to speak to the question of whether this second-order motion processing deficit is a FX-specific phenomenon. RESULTS: As reported previously, infants with the FX full mutation showed motion contrast detection threshold levels that were significantly higher than age-matched typically developing control infants. Strikingly, the motion detection contrast levels of FX premutation infants were also significantly higher than typically developing (TD) infants and not significantly different from the group of infants with FXS or with DS. CONCLUSIONS: These results, which are in keeping with a growing body of evidence on the mild cognitive and perceptual processing deficits and functional and structural brain differences that are present in adults and older children with the FX premutation, underscore the pressing need to study and describe the processing capabilities of infants and toddlers with the FX premutation. En ligne : http://dx.doi.org/10.1186/1866-1955-6-29 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.29[article] Visual motion processing deficits in infants with the fragile X premutation [Texte imprimé et/ou numérique] / P. K. GALLEGO, Auteur ; J. L. BURRIS, Auteur ; S. M. RIVERA, Auteur . - p.29.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.29
Mots-clés : Contrast detection Fragile X syndrome Premutation Visual processing deficits Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) results from a trinucleotide repeat expansion (full mutation >200 cytosine-guanine-guanine (CGG) repeats) in the FMR1 gene, leading to a reduction or absence of the gene's protein product, fragile X mental retardation protein (FMRP), ultimately causing cognitive and behavioral impairments that are characteristic of the syndrome. In our previous work with infants and toddlers with FXS, we have been able to describe much about their cognitive and visual processing abilities. In light of recent work on the mild cognitive deficits and functional and structural brain differences that are present in adults with the fragile X (FX) premutation, in the present study we examined whether some of the low-level visual processing deficits we have observed in infants with FXS would also be present in infants with the FX premutation (55-200 CGG repeats). METHODS: We chose a contrast detection task using second-order motion stimuli on which infants with FXS previously showed significantly increased detection thresholds (Vision Res 48:1471-1478, 2008). Critically, we also included a developmental delay comparison group of infants with Down syndrome (DS), who were matched to infants with FXS on both chronological and mental age, to speak to the question of whether this second-order motion processing deficit is a FX-specific phenomenon. RESULTS: As reported previously, infants with the FX full mutation showed motion contrast detection threshold levels that were significantly higher than age-matched typically developing control infants. Strikingly, the motion detection contrast levels of FX premutation infants were also significantly higher than typically developing (TD) infants and not significantly different from the group of infants with FXS or with DS. CONCLUSIONS: These results, which are in keeping with a growing body of evidence on the mild cognitive and perceptual processing deficits and functional and structural brain differences that are present in adults and older children with the FX premutation, underscore the pressing need to study and describe the processing capabilities of infants and toddlers with the FX premutation. En ligne : http://dx.doi.org/10.1186/1866-1955-6-29 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 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 Emerging topics in FXTAS / D. A. HALL in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : Emerging topics in FXTAS Type de document : Texte imprimé et/ou numérique Auteurs : D. A. HALL, Auteur ; R. C. BIRCH, Auteur ; M. ANHEIM, Auteur ; A. E. JONCH, Auteur ; E. PINTADO, Auteur ; J. O'KEEFE, Auteur ; J. N. TROLLOR, Auteur ; G. T. STEBBINS, Auteur ; Randi J. HAGERMAN, Auteur ; S. FAHN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. A. LEEHEY, Auteur Article en page(s) : p.31 Langues : Anglais (eng) Mots-clés : Ataxia Fmr1 Fxtas Fragile X Premutation Tremor Index. décimale : PER Périodiques Résumé : This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013. En ligne : http://dx.doi.org/10.1186/1866-1955-6-31 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.31[article] Emerging topics in FXTAS [Texte imprimé et/ou numérique] / D. A. HALL, Auteur ; R. C. BIRCH, Auteur ; M. ANHEIM, Auteur ; A. E. JONCH, Auteur ; E. PINTADO, Auteur ; J. O'KEEFE, Auteur ; J. N. TROLLOR, Auteur ; G. T. STEBBINS, Auteur ; Randi J. HAGERMAN, Auteur ; S. FAHN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. A. LEEHEY, Auteur . - p.31.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.31
Mots-clés : Ataxia Fmr1 Fxtas Fragile X Premutation Tremor Index. décimale : PER Périodiques Résumé : This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013. En ligne : http://dx.doi.org/10.1186/1866-1955-6-31 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study / Flora TASSONE in Journal of Autism and Developmental Disorders, 43-3 (March 2013)
[article]
Titre : Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study Type de document : Texte imprimé et/ou numérique Auteurs : Flora TASSONE, Auteur ; Nimrah S. CHOUDHARY, Auteur ; Federica TASSONE, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; David J. HANSEN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Isaac N. PESSAH, Auteur Article en page(s) : p.530-539 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Developmental delay Fragile X Premutation Screening CGG Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (200 repeats) in the 5?UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1580-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192
in Journal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.530-539[article] Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study [Texte imprimé et/ou numérique] / Flora TASSONE, Auteur ; Nimrah S. CHOUDHARY, Auteur ; Federica TASSONE, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; David J. HANSEN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Isaac N. PESSAH, Auteur . - p.530-539.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.530-539
Mots-clés : Autism spectrum disorder Developmental delay Fragile X Premutation Screening CGG Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (200 repeats) in the 5?UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1580-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192