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22q11 deletion

Zhao-Ru Ju, Hui-Jun Wang, Xiao-Jing Ma, Duan Ma, Guo-Ying Huang
BACKGROUND: The most typical cardiac abnormality is conotruncal defects (CTDs) in patients with 22q11 deletion syndrome (22q11DS). HIRA (histone cell cycle regulator) gene, as one of the candidate genes located at the critical region of 22q11DS, was reported as possibly relevant to CTD in animal models. This study aimed to analyze the level of expression of the HIRA gene in tetralogy of Fallot (TOF) patients and the potential DNA sequence variations in the promoter region. METHODS: The messenger RNA (mRNA) expression was examined with quantitative real-time polymerase chain reaction in 39 myocardial tissues of the right ventricular outflow tract (RVOT) from TOF patients and 4 myocardial tissues of RVOT from noncardiac death children...
2016: Chinese Medical Journal
Carmen Brankaer, Pol Ghesquière, Anke De Wel, Ann Swillen, Bert De Smedt
Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion syndrome (22q11DS). We further verified whether the phenotypic outcomes of these syndromes emerged from the same or different cognitive processes and therefore examined whether numerical impairments were related to working memory deficits, often observed in these syndromes...
October 17, 2016: Developmental Science
Zora Kikinis, Kang Ik K Cho, Ioana L Coman, Petya D Radoeva, Sylvain Bouix, Yingying Tang, Ryan Eckbo, Nikos Makris, Jun Soo Kwon, Marek Kubicki, Kevin M Antshel, Wanda Fremont, Martha E Shenton, Wendy R Kates
BACKGROUND: 22q11.2 Deletion Syndrome (22q11DS) is considered to be a promising cohort to explore biomarkers of schizophrenia risk based on a 30 % probability of developing schizophrenia in adulthood. In this study, we investigated abnormalities in the microstructure of white matter in adolescents with 22q11DS and their specificity to prodromal symptoms of schizophrenia. METHODS: Diffusion Magnetic Resonance Imaging (dMRI) data were acquired from 50 subjects with 22q11DS (9 with and 41 without prodromal psychotic symptoms), and 47 matched healthy controls (mean age 18 +/-2 years)...
October 11, 2016: Brain Imaging and Behavior
Hong Chang, Lingyi Li, Tao Peng, Ming Li, Lei Gao, Xiao Xiao
Recent studies suggest that copy number variations (CNVs) are also involved in the genetic risk of schizophrenia. Using a Cochran-Mantel-Haenszel (CMH) adjusted meta-analysis in 18,497 schizophrenia patients and 25,522 healthy controls from 14 independent samples, we conducted replication analyses of four chromosomal deletions at 1q21.1, 15q11.2, 15q13.3, and 22q11.2 Loci for their associations with schizophrenia. Only CNVs larger than 100 kb that had >50% reciprocal overlap with the canonical deletion chromosomal regions were considered...
October 11, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Sarah D' Mello, Radhika Manoj Bavle, K Paremala, Soumya Makarla, M Sudhakara, Madhura Bhatt
BACKGROUND: Oral squamous cell carcinoma (OSCC) is the leading cancer among males in India. It is related to tobacco habits and alcohol consumption as well as the individual susceptibility for xenobiotic metabolizing enzyme polymorphisms. Glutathione S-transferase θ 1 (GSTT1) is a Phase II metabolic enzyme which is directly involved in catalyzing chemicals to mutagenic intermediates. This gene is characterized by genetic polymorphism resulting in complete gene deletion and subsequent absence of the enzyme, which ultimately dictates the risk of cancer development...
September 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
Maude Schneider, Marco Armando, Maria Pontillo, Stefano Vicari, Martin Debbané, Frauke Schultze-Lutter, Stephan Eliez
The 22q11.2 deletion syndrome (22q11DS) is characterized by high rates of psychotic symptoms and schizophrenia, making this condition a promising human model for studying risk factors for psychosis. We explored the predictive value of ultra high risk (UHR) criteria in a sample of patients with 22q11DS. We also examined the additional contribution of socio-demographic, clinical and cognitive variables to predict transition to psychosis within a mean interval of 32.5 ± 17.6 months after initial assessment...
October 2016: World Psychiatry: Official Journal of the World Psychiatric Association (WPA)
Gregg W Crabtree, Alan J Park, Joshua A Gordon, Joseph A Gogos
Proline dehydrogenase (PRODH), which degrades L-proline, resides within the schizophrenia-linked 22q11.2 deletion suggesting a role in disease. Supporting this, elevated L-proline levels have been shown to increase risk for psychotic disorders. Despite the strength of data linking PRODH and L-proline to neuropsychiatric diseases, targets of disease-relevant concentrations of L-proline have not been convincingly described. Here, we show that Prodh-deficient mice with elevated CNS L-proline display specific deficits in high-frequency GABA-ergic transmission and gamma-band oscillations...
October 4, 2016: Cell Reports
Waverly Harrell, Ling Zou, Zoe Englander, Stephen R Hooper, Matcheri S Keshavan, Allen Song, Vandana Shashi
Impairments in executive function, such as working memory, are almost universal in children with chromosome 22q11.2 deletion syndrome. Delineating the neural underpinnings of these functions would enhance understanding of these impairments. In this study, children and adolescents with 22q11 deletion syndrome were compared with healthy control participants in a functional magnetic resonance imaging (MRI) study of working memory. When the 2-back condition was contrasted with the 1-back and 0-back conditions, the participants with 22q11 deletion syndrome showed lower activation in several brain areas involved in working memory-notably dorsolateral prefrontal cortex, anterior cingulate, and precuneus...
October 4, 2016: Journal of Child Neurology
Ellen Van Den Heuvel, Christina ReuterskiöLd, Cynthia Solot, Eric Manders, Ann Swillen, Inge Zink
PURPOSE: This study describes the performance on a perspective- and role-taking task in 27 children, ages 6-13 years, with 22q11.2 deletion syndrome (22q11.2DS). A cross-cultural design comparing Dutch- and English-speaking children with 22q11.2DS explored the possibility of cultural differences. METHOD: Chronologically age-matched and younger typically developing (TD) children matched for receptive vocabulary served as control groups to identify challenges in referential communication...
October 3, 2016: International Journal of Speech-language Pathology
Marta Unolt, Lauren DiCairano, Kathryn Schlechtweg, Jessica Barry, Lori Howell, Stefanie Kasperski, Michael Nance, N Scott Adzick, Elaine H Zackai, Donna M McDonald-McGinn
We report the important association of congenital diaphragmatic hernia (CDH) and 22q11.2 deletion syndrome (22q11.2DS). The prevalence of CDH in our cohort of patients with 22q11.2DS is 0.8% (10/1246), which is greater than in the general population (0.025%). This observation suggests that 22q11.2DS should be considered when a child or fetus presents with CDH, in particular when other clinical findings associated with the 22q11.2DS are present, such as congenital cardiac defects. Furthermore, this finding may lead to the identification of an additional locus for diaphragmatic hernia in the general population...
September 28, 2016: American Journal of Medical Genetics. Part A
Caroline Demily, Nicolas Franck
The 22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, with a widely underestimated prevalence between 1 per 2000 and 1 per 6000. Since childhood, patients with 22q11.2DS are described as having difficulties to initiate and maintain peer relationships. This lack of social skills has been linked to attention deficits/hyperactivity disorder, anxiety and depression. A high incidence of psychosis and positive symptoms is observed in patients with 22q11.2DS and remains correlated with poor social functioning, anxiety and depressive symptoms...
September 14, 2016: European Journal of Medical Genetics
Magdalena Koczkowska, Jolanta Wierzba, Robert Śmigiel, Maria Sąsiadek, Magdalena Cabała, Ryszard Ślężak, Mariola Iliszko, Iwona Kardaś, Janusz Limon, Beata S Lipska-Ziętkiewicz
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with clinical features resembling the syndrome who are eventually diagnosed with genomic disorders affecting other chromosomal regions. The objective of this study was to evaluate the additive value of high-resolution array-CGH testing in the cohort of 41 patients with clinical features of 22q11...
September 14, 2016: Journal of Applied Genetics
Margaret A Mariano, Kerri Tang, Matthew Kurtz, Wendy R Kates
AIM: Schizophrenia and 22q11.2 deletion syndrome (22q11DS) share similar patterns of cognitive deficits. Up to 30% of those with 22q11DS develop schizophrenia during early adulthood. As cognitive decline has recently been found to predict onset of psychosis in adolescents with 22q11DS, early interventions such as cognitive remediation (CR) during adolescence are warranted. This paper investigates the durability of a remote, computerized, CR programme for youth with 22q11DS. Our aim was to determine if the positive effects of CR persisted 6 months beyond intervention completion...
September 15, 2016: Early Intervention in Psychiatry
J Eric Schmitt, James Yi, Monica E Calkins, Kosha Ruparel, David R Roalf, Amy Cassidy, Margaret C Souders, Theodore D Satterthwaite, Donna M McDonald-McGinn, Elaine H Zackai, Ruben C Gur, Beverly S Emanuel, Raquel E Gur
The 22q11.2 deletion syndrome (22q11DS) is an uncommon genetic disorder with an increased risk of psychosis. Although the neural substrates of psychosis and schizophrenia are not well understood, aberrations in cortical networks represent intriguing potential mechanisms. Investigations of anatomic networks within 22q11DS are sparse. We investigated group differences in anatomic network structure in 48 individuals with 22q11DS and 370 typically developing controls by analyzing covariance patterns in cortical thickness among 68 regions of interest using graph theoretical models...
2016: NeuroImage: Clinical
Colleen P Franconi, Donna McDonald-McGinn, Elaine H Zackai, Meghan A McNamara, Harold Salmons, Edward Moss, Raquel E Gur, Marcella Devoto, Beverly S Emanuel
22q11.2 Deletion Syndrome (22q11DS) is a multisystem disorder caused by a hemizygous deletion within 22q11.2. Patients with the deletion display a wide range of cognitive deficits. The gene catechol-O-methyl-transferase (COMT) resides in the typically deleted region of 22q11.2 and is rendered hemizygous in individuals affected by the 22q11DS. COMT is a critical enzyme in the degradation of catecholamine neurotransmitters in the brain. A functional polymorphism, Val(158) Met, has been associated with a variety of neurocognitive outcomes...
September 13, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Daniel Jacobson, Megan Bursch, Renee Lajiness-O'Neill
22q11.2 Deletion syndrome is a genetic disorder characterized by physiological and psychological symptoms. This study investigated the role of cortisol on the social and cognitive impairments in children with 22q11.2. A total of 11 children with 22q11.2 were assessed for baseline cortisol levels and received broad neuropsychological testing. Results were compared with 11 controls. Children with 22q11.2 had significantly higher cortisol levels. A significant negative correlation was observed between the general memory and attention/concentration indices of the Wide Range Assessment of Memory and Learning, 2nd edition and cortisol concentrations in the control population...
September 2016: Journal of Pediatric Genetics
Paldeep S Atwal, C Macmurdo
Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 deletion syndrome (DiGeorge syndrome or velocardiofacial syndrome) are known to have congenital cardiac malformations (in particular conotruncal defects), palatal abnormalities (especially velopharyngeal insufficiency), hypocalcemia, immune deficiency, learning disabilities, and characteristic facial features...
December 2015: Journal of Pediatric Genetics
Leo M J de Sonneville, Elske Hidding, Herman van Engeland, Jacob A S Vorstman, Monique E J Sijmens-Morcus, Hanna Swaab
Children with 22q11.2 deletion syndrome (22q11DS; velo-cardio-facial-syndrome) are at risk for the developmental disorders, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). In this study, the relation between executive functioning (EF) and the severity of ADHD and ASD symptoms is examined, since EF is known to be important in relation to emotional and behavioral problems. The participants consist of 58 children (38 females) with a mean age of 13.5 years (SD 2.6). Standardized assessment was used to evaluate the severity of ASD and ADHD symptomatology...
September 9, 2016: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
Rachel K Jonas, Maria Jalbrzikowski, Caroline A Montojo, Arati Patel, Leila Kushan, Carolyn C Chow, Therese Vesagas, Carrie E Bearden
22q11.2 deletion syndrome (22q11DS) is a neurogenetic disorder associated with elevated rates of developmental neuropsychiatric disorders and impaired executive function (EF). Disrupted brain structure-function relationships may underlie EF deficits in 22q11DS. We administered the Behavior Rating Inventory of Executive Function (BRIEF) to assess real-world EF in patients with 22q11DS and matched controls (n = 86; age 6-17 years), along with cognitive measures that tap behavioral regulation and metacognition aspects of EF...
December 2015: Molecular Neuropsychiatry
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