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In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects? / Z. MOTAHARI in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)
[article]
Titre : In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects? Type de document : Texte imprimé et/ou numérique Auteurs : Z. MOTAHARI, Auteur ; S. A. MOODY, Auteur ; T. M. MAYNARD, Auteur ; A. S. LAMANTIA, Auteur Article en page(s) : 7 p. Langues : Anglais (eng) Mots-clés : 22q11DS Cardiovascular Cognition Copy number variants Craniofacial Neural development Polygenic Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chromosome 22 (hChr22) (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011). This disorder was known as DiGeorge syndrome, Velo-cardio-facial syndrome (VCFS) or conotruncal anomaly face syndrome (CTAF) based upon diagnostic cardiovascular, pharyngeal, and craniofacial anomalies (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011; Burn et al., J Med Genet 30:822-4, 1993) before this phenotypic spectrum was associated with 22q11.2 CNVs. Subsequently, 22q11.2 deletion emerged as a major genomic lesion associated with vulnerability for several clinically defined behavioral deficits common to a number of neurodevelopmental disorders (Fernandez et al., Principles of Developmental Genetics, 2015; Robin and Shprintzen, J Pediatr 147:90-6, 2005; Schneider et al., Am J Psychiatry 171:627-39, 2014). RESULTS: The mechanistic relationships between heterozygously deleted 22q11.2 genes and 22q11DS phenotypes are still unknown. We assembled a comprehensive "line-up" of the 36 protein coding loci in the 1.5 Mb minimal critical deleted region on hChr22q11.2, plus 20 protein coding loci in the distal 1.5 Mb that defines the 3 Mb typical 22q11DS deletion. We categorized candidates based upon apparent primary cell biological functions. We analyzed 41 of these genes that encode known proteins to determine whether haploinsufficiency of any single 22q11.2 gene-a one gene to one phenotype correspondence due to heterozygous deletion restricted to that locus-versus complex multigenic interactions can account for single or multiple 22q11DS phenotypes. CONCLUSIONS: Our 22q11.2 functional genomic assessment does not support current theories of single gene haploinsufficiency for one or all 22q11DS phenotypes. Shared molecular functions, convergence on fundamental cell biological processes, and related consequences of individual 22q11.2 genes point to a matrix of multigenic interactions due to diminished 22q11.2 gene dosage. These interactions target fundamental cellular mechanisms essential for development, maturation, or homeostasis at subsets of 22q11DS phenotypic sites. En ligne : https://dx.doi.org/10.1186/s11689-019-9267-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 7 p.[article] In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects? [Texte imprimé et/ou numérique] / Z. MOTAHARI, Auteur ; S. A. MOODY, Auteur ; T. M. MAYNARD, Auteur ; A. S. LAMANTIA, Auteur . - 7 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 7 p.
Mots-clés : 22q11DS Cardiovascular Cognition Copy number variants Craniofacial Neural development Polygenic Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chromosome 22 (hChr22) (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011). This disorder was known as DiGeorge syndrome, Velo-cardio-facial syndrome (VCFS) or conotruncal anomaly face syndrome (CTAF) based upon diagnostic cardiovascular, pharyngeal, and craniofacial anomalies (McDonald-McGinn and Sullivan, Medicine 90:1-18, 2011; Burn et al., J Med Genet 30:822-4, 1993) before this phenotypic spectrum was associated with 22q11.2 CNVs. Subsequently, 22q11.2 deletion emerged as a major genomic lesion associated with vulnerability for several clinically defined behavioral deficits common to a number of neurodevelopmental disorders (Fernandez et al., Principles of Developmental Genetics, 2015; Robin and Shprintzen, J Pediatr 147:90-6, 2005; Schneider et al., Am J Psychiatry 171:627-39, 2014). RESULTS: The mechanistic relationships between heterozygously deleted 22q11.2 genes and 22q11DS phenotypes are still unknown. We assembled a comprehensive "line-up" of the 36 protein coding loci in the 1.5 Mb minimal critical deleted region on hChr22q11.2, plus 20 protein coding loci in the distal 1.5 Mb that defines the 3 Mb typical 22q11DS deletion. We categorized candidates based upon apparent primary cell biological functions. We analyzed 41 of these genes that encode known proteins to determine whether haploinsufficiency of any single 22q11.2 gene-a one gene to one phenotype correspondence due to heterozygous deletion restricted to that locus-versus complex multigenic interactions can account for single or multiple 22q11DS phenotypes. CONCLUSIONS: Our 22q11.2 functional genomic assessment does not support current theories of single gene haploinsufficiency for one or all 22q11DS phenotypes. Shared molecular functions, convergence on fundamental cell biological processes, and related consequences of individual 22q11.2 genes point to a matrix of multigenic interactions due to diminished 22q11.2 gene dosage. These interactions target fundamental cellular mechanisms essential for development, maturation, or homeostasis at subsets of 22q11DS phenotypic sites. En ligne : https://dx.doi.org/10.1186/s11689-019-9267-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 The Importance of Understanding Individual Differences of Emotion Regulation Abilities in 22q11.2 Deletion Syndrome / L. E. CAMPBELL in Journal of Autism and Developmental Disorders, 52-7 (July 2022)
[article]
Titre : The Importance of Understanding Individual Differences of Emotion Regulation Abilities in 22q11.2 Deletion Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. E. CAMPBELL, Auteur ; L. SWAAB, Auteur ; E. E. FREEMAN, Auteur ; L. MCCORMACK, Auteur ; T. J. SIMON, Auteur ; K. ANGKUSTSIRI, Auteur ; K. L. MCCABE, Auteur Article en page(s) : p.3076-3087 Langues : Anglais (eng) Mots-clés : Adolescent Attention Deficit Disorder with Hyperactivity Autism Spectrum Disorder DiGeorge Syndrome/psychology Emotional Regulation Humans Individuality 22q11DS Attention-deficit/hyperactivity disorder Emotion regulation Externalizing disorder Velo-cardio-facial syndrome Index. décimale : PER Périodiques Résumé : Chromosome 22q11.2 deletion syndrome (22q11DS) is characterised by a complex behavioural phenotype including anxiety, attention-deficit/hyperactivity disorder and psychosis. In the current study, we aimed at improving our understanding of the heterogeneity of behavioural characteristics in a group of 129 young people (aged 4-22) with a confirmed 22q11.2 microdeletion and 116 age and gender matched typically developing controls. Half the participants with 22q11DS had behaviour characterised by emotion dysregulation. A cluster analyses, of the participants with 22q11DS, revealed four groups characterised by intact emotion regulation; predominantly internalizing problems; both internalizing and externalizing problems; and predominantly externalizing difficulties. Importantly, it was found that young people with 22q11DS whose emotion dysregulation was characterised by externalizing problems had the poorest levels of functioning. As our understanding of 22q11DS improves, it is becoming increasingly clear that we need a better understanding of how individual differences and psychosocial factors contribute to, and interact with one another, to result in the observable individual differences in the 22q11DS behavioural phenotype. En ligne : http://dx.doi.org/10.1007/s10803-021-05172-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477
in Journal of Autism and Developmental Disorders > 52-7 (July 2022) . - p.3076-3087[article] The Importance of Understanding Individual Differences of Emotion Regulation Abilities in 22q11.2 Deletion Syndrome [Texte imprimé et/ou numérique] / L. E. CAMPBELL, Auteur ; L. SWAAB, Auteur ; E. E. FREEMAN, Auteur ; L. MCCORMACK, Auteur ; T. J. SIMON, Auteur ; K. ANGKUSTSIRI, Auteur ; K. L. MCCABE, Auteur . - p.3076-3087.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-7 (July 2022) . - p.3076-3087
Mots-clés : Adolescent Attention Deficit Disorder with Hyperactivity Autism Spectrum Disorder DiGeorge Syndrome/psychology Emotional Regulation Humans Individuality 22q11DS Attention-deficit/hyperactivity disorder Emotion regulation Externalizing disorder Velo-cardio-facial syndrome Index. décimale : PER Périodiques Résumé : Chromosome 22q11.2 deletion syndrome (22q11DS) is characterised by a complex behavioural phenotype including anxiety, attention-deficit/hyperactivity disorder and psychosis. In the current study, we aimed at improving our understanding of the heterogeneity of behavioural characteristics in a group of 129 young people (aged 4-22) with a confirmed 22q11.2 microdeletion and 116 age and gender matched typically developing controls. Half the participants with 22q11DS had behaviour characterised by emotion dysregulation. A cluster analyses, of the participants with 22q11DS, revealed four groups characterised by intact emotion regulation; predominantly internalizing problems; both internalizing and externalizing problems; and predominantly externalizing difficulties. Importantly, it was found that young people with 22q11DS whose emotion dysregulation was characterised by externalizing problems had the poorest levels of functioning. As our understanding of 22q11DS improves, it is becoming increasingly clear that we need a better understanding of how individual differences and psychosocial factors contribute to, and interact with one another, to result in the observable individual differences in the 22q11DS behavioural phenotype. En ligne : http://dx.doi.org/10.1007/s10803-021-05172-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=477