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Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion
(Springer Science and Business Media LLC, 2026-04-15)
Muyang Cheng
;
Yue Yin
;
Worrawat Engchuan
;
Tracy Heung
;
Kathleen Angkustsiri
1
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Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
(2017)
Anne S. Bassett
;
Chelsea Lowther
;
Daniele Merico
;
Gregory Costain
;
Eva W. C. Chow
Scopus© Citations 77
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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
(2023)
Yingjie Zhao
;
Yujue Wang
;
Lijie Shi
;
Donna M. McDonald-McGinn
;
T. Blaine Crowley
<jats:title>Abstract</jats:title><jats:p>Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification of genetic modifiers. Haploinsufficiency of <jats:italic>TBX1</jats:italic>, encoding a T-box transcription factor, is one of the main genes responsible for the etiology of the syndrome. We suggest that genetic modifiers of conotruncal defects in patients with 22q11.2DS may be in the <jats:italic>TBX1</jats:italic> gene network. To identify genetic modifiers, we analyzed rare, predicted damaging variants in whole genome sequence of 456 cases with conotruncal defects and 537 controls, with 22q11.2DS. We then performed gene set approaches and identified chromatin regulatory genes as modifiers. Chromatin genes with recurrent damaging variants include <jats:italic>EP400</jats:italic>, <jats:italic>KAT6A</jats:italic>, <jats:italic>KMT2C</jats:italic>, <jats:italic>KMT2D</jats:italic>, <jats:italic>NSD1, CHD7</jats:italic> and <jats:italic>PHF21A</jats:italic>. In total, we identified 37 chromatin regulatory genes, that may increase risk for conotruncal heart defects in 8.5% of 22q11.2DS cases. Many of these genes were identified as risk factors for sporadic CHD in the general population. These genes are co-expressed in cardiac progenitor cells with <jats:italic>TBX1</jats:italic>, suggesting that they may be in the same genetic network. The genes <jats:italic>KAT6A</jats:italic>, <jats:italic>KMT2C</jats:italic>, <jats:italic>CHD7</jats:italic> and <jats:italic>EZH2</jats:italic>, have been previously shown to genetically interact with <jats:italic>TBX1</jats:italic> in mouse models. Our findings indicate that disturbance of chromatin regulatory genes impact the <jats:italic>TBX1</jats:italic> gene network serving as genetic modifiers of 22q11.2DS and sporadic CHD, suggesting that there are some shared mechanisms involving the <jats:italic>TBX1</jats:italic> gene network in the etiology of CHD.</jats:p>
Scopus© Citations 4 3
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Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
(2023)
Erik Boot
;
Sólveig Óskarsdóttir
;
Joanne C.Y. Loo
;
Terrence Blaine Crowley
;
Ani Orchanian-Cheff
Scopus© Citations 76 2
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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
(2023)
Sólveig Óskarsdóttir
;
Erik Boot
;
Terrence Blaine Crowley
;
Joanne C.Y. Loo
;
Jill M. Arganbright
Scopus© Citations 50 2
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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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A normative chart for cognitive development in a genetically selected population
(2021)
Ania M. Fiksinski
;
Carrie E. Bearden
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Anne S. Bassett
;
René S. Kahn
;
Janneke R. Zinkstok
15Scopus© Citations 19
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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
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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
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Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
(2018)
Tingwei Guo
;
Alexander Diacou
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Hiroko Nomaru
;
Donna M McDonald-McGinn
;
Matthew Hestand
1Scopus© Citations 20
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Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
(2018)
Yingjie Zhao
;
Tingwei Guo
;
Ania Fiksinski
;
Elemi Breetvelt
;
Donna M. McDonald-McGinn
12Scopus© Citations 37

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