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Author: search.filters.author.Beverly S. EmanuelSubject: search.filters.subject.digeorge syndrome

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    Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
    (2023)
    Lindsay R. Freud
    ;
    Stephanie Galloway
    ;
    T. Blaine Crowley
    ;
    Julie Moldenhauer
    ;
    Ann Swillen
      1Scopus© Citations 9
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    Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
    (2020)
    Isabelle Cleynen
    ;
    Worrawat Engchuan
    ;
    Matthew S. Hestand
    ;
    Tracy Heung
    ;
    Aaron M. Holleman
    Scopus© Citations 98  2
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    Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
    (2020)
    Robert W. Davies
    ;
    Ania M. Fiksinski
    ;
    Elemi J. Breetvelt
    ;
    Nigel M. Williams
    ;
    Stephen R. Hooper
      8Scopus© Citations 101
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    Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness
    (2020)
    Christopher R.K. Ching
    ;
    Boris A. Gutman
    ;
    Daqiang Sun
    ;
    Julio Villalon Reina
    ;
    Anjanibhargavi Ragothaman
    Scopus© Citations 44  8
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    Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3
    (2017)
    Tingwei Guo
    ;
    REPETTO LISBOA, MARIA GABRIELA  
    ;
    Donna M. McDonald McGinn
    ;
    Jonathan H. Chung
    ;
    Hiroko Nomaru
    <jats:sec> <jats:title>Background—</jats:title> <jats:p>The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. In our cohort of 1472 subjects with 22q11.2DS, a total of 62% (n=906) have congenital heart disease and 36% (n=326) of these have tetralogy of Fallot (TOF), comprising the largest subset of severe congenital heart disease in the cohort.</jats:p> </jats:sec> <jats:sec> <jats:title>Methods and Results—</jats:title> <jats:p> To identify common genetic variants associated with TOF in individuals with 22q11.2DS, we performed a genome-wide association study using Affymetrix 6.0 array and imputed genotype data. In our cohort, TOF was significantly associated with a genotyped single-nucleotide polymorphism (rs12519770, <jats:italic>P</jats:italic> =2.98×10 <jats:sup>−</jats:sup> <jats:sup>8</jats:sup> ) in an intron of the adhesion <jats:italic>GPR98</jats:italic> (G-protein–coupled receptor V1) gene on chromosome 5q14.3. There was also suggestive evidence of association between TOF and several additional single-nucleotide polymorphisms in this region. Some genome-wide significant loci in introns or noncoding regions could affect regulation of genes nearby or at a distance. On the basis of this possibility, we examined existing Hi-C chromatin conformation data to identify genes that might be under shared transcriptional regulation within the region on 5q14.3. There are 6 genes in a topologically associated domain of chromatin with <jats:italic>GPR98</jats:italic> , including <jats:italic>MEF2C</jats:italic> (Myocyte-specific enhancer factor 2C). <jats:italic>MEF2C</jats:italic> is the only gene that is known to affect heart development in mammals and might be of interest with respect to 22q11.2DS. </jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions—</jats:title> <jats:p>In conclusion, common variants may contribute to TOF in 22q11.2DS and may function in cardiac outflow tract development.</jats:p> </jats:sec>
    Scopus© Citations 21  4