22q11. 2 deletion syndrome

DM McDonald-McGinn, KE Sullivan, B Marino… - Nature reviews Disease …, 2015 - nature.com
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

Neurobiological perspective of 22q11. 2 deletion syndrome

JR Zinkstok, E Boot, AS Bassett, N Hiroi… - The Lancet …, 2019 - thelancet.com
Summary 22q11. 2 deletion syndrome is characterised by a well defined microdeletion that
is associated with a high risk of neuropsychiatric disorders, including intellectual disability …

Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders

J Seidlitz, A Nadig, S Liu, RAI Bethlehem… - Nature …, 2020 - nature.com
Neurodevelopmental disorders have a heritable component and are associated with region
specific alterations in brain anatomy. However, it is unclear how genetic risks for …

Large-scale mapping of cortical alterations in 22q11. 2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size

D Sun, CRK Ching, A Lin, JK Forsyth, L Kushan… - Molecular …, 2020 - nature.com
Abstract The 22q11. 2 deletion (22q11DS) is a common chromosomal microdeletion and a
potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in …

The genetics and epigenetics of 22q11. 2 deletion syndrome

Q Du, MT de la Morena, NSC van Oers - Frontiers in Genetics, 2020 - frontiersin.org
Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …

A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11. 2 deletion syndrome

AM Fiksinski, GD Hoftman, JAS Vorstman… - Molecular …, 2023 - nature.com
Recently, increasing numbers of rare pathogenic genetic variants have been identified that
are associated with variably elevated risks of a range of neurodevelopmental outcomes …

Mitochondrial proteins encoded by the 22q11. 2 neurodevelopmental locus regulate neural stem and progenitor cell proliferation

PD Campbell, I Lee, S Thyme, M Granato - Molecular psychiatry, 2023 - nature.com
Microdeletion of a 3Mb region encompassing 45 protein-coding genes at chromosome
22q11. 2 (22q11. 2DS) predisposes individuals to multiple neurodevelopmental disorders …

In the line-up: deleted genes associated with DiGeorge/22q11. 2 deletion syndrome: are they all suspects?

Z Motahari, SA Moody, TM Maynard… - Journal of …, 2019 - Springer
Abstract Background 22q11. 2 deletion syndrome (22q11DS), a copy number variation
(CNV) disorder, occurs in approximately 1: 4000 live births due to a heterozygous …

Update on the 22q11. 2 deletion syndrome and its relevance to schizophrenia

L Van, E Boot, AS Bassett - Current opinion in psychiatry, 2017 - journals.lww.com
Progress in characterizing and predicting psychotic illness in 22q11. 2DS supports this
identifiable subpopulation as a molecular model with important implications for …

A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11. 2 Deletion Syndrome Brain Behavior Consortium

RE Gur, AS Bassett, DM McDonald-McGinn… - Molecular …, 2017 - nature.com
Rare copy number variants contribute significantly to the risk for schizophrenia, with the
22q11. 2 locus consistently implicated. Individuals with the 22q11. 2 deletion syndrome …