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Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder / Serkan GÜNES in Journal of Autism and Developmental Disorders, 47-2 (February 2017)
[article]
Titre : Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Serkan GÜNES, Auteur ; Özalp EKINCI, Auteur ; Nuran EKINCI, Auteur ; Fevziye TOROS, Auteur Article en page(s) : p.520-521 Langues : Anglais (eng) Mots-clés : 9p Deletion Autism Index. décimale : PER Périodiques Résumé : Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder. En ligne : http://dx.doi.org/10.1007/s10803-016-2943-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303
in Journal of Autism and Developmental Disorders > 47-2 (February 2017) . - p.520-521[article] Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Serkan GÜNES, Auteur ; Özalp EKINCI, Auteur ; Nuran EKINCI, Auteur ; Fevziye TOROS, Auteur . - p.520-521.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 47-2 (February 2017) . - p.520-521
Mots-clés : 9p Deletion Autism Index. décimale : PER Périodiques Résumé : Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder. En ligne : http://dx.doi.org/10.1007/s10803-016-2943-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303 Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 / Pauline CHASTE in Autism Research, 7-3 (June 2014)
[article]
Titre : Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 Type de document : Texte imprimé et/ou numérique Auteurs : Pauline CHASTE, Auteur ; Stephan J. SANDERS, Auteur ; Kommu N. MOHAN, Auteur ; Lambertus KLEI, Auteur ; Youeun SONG, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. Jeremy WILLSEY, Auteur ; Daniel MORENO-DE-LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Christa Lese MARTIN, Auteur ; Bernie DEVLIN, Auteur ; Arthur L. BEAUDET, Auteur ; Edwin H. Jr COOK, Auteur ; Soo-Jeong KIM, Auteur Article en page(s) : p.355-362 Langues : Anglais (eng) Mots-clés : 15q11.2 deletion duplication penetrance autism Index. décimale : PER Périodiques Résumé : The proximal region of chromosome 15 is one of the genomic hotspots for copy number variants (CNVs). Among the rearrangements observed in this region, CNVs from the interval between the common breakpoints 1 and 2 (BP1 and BP2) have been reported cosegregating with autism spectrum disorder (ASD). Although evidence supporting an association between BP1-BP2 CNVs and autism accumulates, the magnitude of the effect of BP1-BP2 CNVs remains elusive, posing a great challenge to recurrence-risk counseling. To gain further insight into their pathogenicity for ASD, we estimated the penetrance of the BP1-BP2 CNVs for ASD as well as their effects on ASD-related phenotypes in a well-characterized ASD sample (n?=?2525 families). Transmission disequilibrium test revealed significant preferential transmission only for the duplicated chromosome in probands (20T:9NT). The penetrance of the BP1-BP2 CNVs for ASD was low, conferring additional risks of 0.3% (deletion) and 0.8% (duplication). Stepwise regression analyses suggest a greater effect of the CNVs on ASD-related phenotype in males and when maternally inherited. Taken together, the results are consistent with BP1-BP2 CNVs as risk factors for autism. However, their effect is modest, more akin to that seen for common variants. To be consistent with the current American College of Medical Genetics guidelines for interpretation of postnatal CNV, the BP1-BP2 deletion and duplication CNVs would probably best be classified as variants of uncertain significance (VOUS): they appear to have an impact on risk, but one so modest that these CNVs do not merit pathogenic status. Autism Res 2014, 7: 355–362. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1378 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=235
in Autism Research > 7-3 (June 2014) . - p.355-362[article] Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 [Texte imprimé et/ou numérique] / Pauline CHASTE, Auteur ; Stephan J. SANDERS, Auteur ; Kommu N. MOHAN, Auteur ; Lambertus KLEI, Auteur ; Youeun SONG, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. Jeremy WILLSEY, Auteur ; Daniel MORENO-DE-LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Christa Lese MARTIN, Auteur ; Bernie DEVLIN, Auteur ; Arthur L. BEAUDET, Auteur ; Edwin H. Jr COOK, Auteur ; Soo-Jeong KIM, Auteur . - p.355-362.
Langues : Anglais (eng)
in Autism Research > 7-3 (June 2014) . - p.355-362
Mots-clés : 15q11.2 deletion duplication penetrance autism Index. décimale : PER Périodiques Résumé : The proximal region of chromosome 15 is one of the genomic hotspots for copy number variants (CNVs). Among the rearrangements observed in this region, CNVs from the interval between the common breakpoints 1 and 2 (BP1 and BP2) have been reported cosegregating with autism spectrum disorder (ASD). Although evidence supporting an association between BP1-BP2 CNVs and autism accumulates, the magnitude of the effect of BP1-BP2 CNVs remains elusive, posing a great challenge to recurrence-risk counseling. To gain further insight into their pathogenicity for ASD, we estimated the penetrance of the BP1-BP2 CNVs for ASD as well as their effects on ASD-related phenotypes in a well-characterized ASD sample (n?=?2525 families). Transmission disequilibrium test revealed significant preferential transmission only for the duplicated chromosome in probands (20T:9NT). The penetrance of the BP1-BP2 CNVs for ASD was low, conferring additional risks of 0.3% (deletion) and 0.8% (duplication). Stepwise regression analyses suggest a greater effect of the CNVs on ASD-related phenotype in males and when maternally inherited. Taken together, the results are consistent with BP1-BP2 CNVs as risk factors for autism. However, their effect is modest, more akin to that seen for common variants. To be consistent with the current American College of Medical Genetics guidelines for interpretation of postnatal CNV, the BP1-BP2 deletion and duplication CNVs would probably best be classified as variants of uncertain significance (VOUS): they appear to have an impact on risk, but one so modest that these CNVs do not merit pathogenic status. Autism Res 2014, 7: 355–362. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1378 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=235