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22q11 deletion

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https://www.readbyqxmd.com/read/27892953/thalamic-mir-338-3p-mediates-auditory-thalamocortical-disruption-and-its-late-onset-in-models-of-22q11-2-microdeletion
#1
Sungkun Chun, Fei Du, Joby J Westmoreland, Seung Baek Han, Yong-Dong Wang, Donnie Eddins, Ildar T Bayazitov, Prakash Devaraju, Jing Yu, Marcia M Mellado Lagarde, Kara Anderson, Stanislav S Zakharenko
Although 22q11.2 deletion syndrome (22q11DS) is associated with early-life behavioral abnormalities, affected individuals are also at high risk for the development of schizophrenia symptoms, including psychosis, later in life. Auditory thalamocortical (TC) projections recently emerged as a neural circuit that is specifically disrupted in mouse models of 22q11DS (hereafter referred to as 22q11DS mice), in which haploinsufficiency of the microRNA (miRNA)-processing-factor-encoding gene Dgcr8 results in the elevation of the dopamine receptor Drd2 in the auditory thalamus, an abnormal sensitivity of thalamocortical projections to antipsychotics, and an abnormal acoustic-startle response...
November 28, 2016: Nature Medicine
https://www.readbyqxmd.com/read/27891188/associations-between-social-cognition-skills-and-function-and-subclinical-negative-and-positive-symptoms-in-22q11-2-deletion-syndrome
#2
A Vangkilde, J R M Jepsen, H Schmock, C Olesen, S Arnarsdóttir, W F C Baaré, K J Plessen, M Didriksen, H R Siebner, T Werge, L Olsen
BACKGROUND: Identification of the early signs of schizophrenia would be a major achievement for the early intervention and prevention strategies in psychiatry. Social impairments are defining features of schizophrenia. Impairments of individual layers of social competencies are frequently described in individuals with 22q11.2 deletion syndrome (22q11.2DS), who have high risk of schizophrenia. It is unclear whether and to what extent social impairments associate with subclinical negative and positive symptoms in 22q11...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27880953/deletion-of-top3b-is-associated-with-cognitive-impairment-and-facial-dysmorphism
#3
Carolyn S Kaufman, Ann Genovese, Merlin G Butler
Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidated for these deletions, and it remains unclear which specific genes play the dominant roles in producing associated clinical features. Several deletions involve entirely distinct regions of chromosome 22q11 but do not overlap, suggesting that a number of different genes contribute to the clinical features...
November 24, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27879657/screening-for-mutations-in-the-tbx1-gene-on-chromosome-22q11-2-in-schizophrenia
#4
Lieh-Yung Ping, Yang-An Chuang, Shih-Hsin Hsu, Hsin-Yao Tsai, Min-Chih Cheng
A higher-than-expected frequency of schizophrenia in patients with 22q11.2 deletion syndrome suggests that chromosome 22q11.2 harbors the responsive genes related to the pathophysiology of schizophrenia. The TBX1 gene, which maps to the region on chromosome 22q11.2, plays a vital role in neuronal functions. Haploinsufficiency of the TBX1 gene is associated with schizophrenia endophenotype. This study aimed to investigate whether the TBX1 gene is associated with schizophrenia. We searched for mutations in the TBX1 gene in 652 patients with schizophrenia and 567 control subjects using a re-sequencing method and conducted a reporter gene assay...
November 22, 2016: Genes
https://www.readbyqxmd.com/read/27858403/cardiac-rehabilitation-in-an-adolescent-with-digeorge-syndrome-a-case-report
#5
Dong J Kim, Ka Y Lee, Yuri Choe, Jae Y Han, In S Choi
BACKGROUND: Digeorge syndrome is a rare disease that has variable clinical symptoms resulting from 22q11 deletions, included cardiac abnormality, abnormal face and thymic aplasia, and cognitive impairment. There was a no reports regarding the efficiency of cardiac rehabilitation (CR) in patients with Digeorge syndrome with tetralogy of fallot. CASE REPORT: A 15-year-old girl with DGS visited our CR center. The patient carried out the exercise training 3 times a week for 6 weeks, using a treadmill with electrocardiogram monitoring...
November 18, 2016: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27846841/integrative-transcriptome-network-analysis-of-ipsc-derived-neurons-from-schizophrenia-and-schizoaffective-disorder-patients-with-22q11-2-deletion
#6
Mingyan Lin, Erika Pedrosa, Anastasia Hrabovsky, Jian Chen, Benjamin R Puliafito, Stephanie R Gilbert, Deyou Zheng, Herbert M Lachman
BACKGROUND: Individuals with 22q11.2 Deletion Syndrome (22q11.2 DS) are a specific high-risk group for developing schizophrenia (SZ), schizoaffective disorder (SAD) and autism spectrum disorders (ASD). Several genes in the deleted region have been implicated in the development of SZ, e.g., PRODH and DGCR8. However, the mechanistic connection between these genes and the neuropsychiatric phenotype remains unclear. To elucidate the molecular consequences of 22q11.2 deletion in early neural development, we carried out RNA-seq analysis to investigate gene expression in early differentiating human neurons derived from induced pluripotent stem cells (iPSCs) of 22q11...
November 15, 2016: BMC Systems Biology
https://www.readbyqxmd.com/read/27843501/visual-memory-profile-in-22q11-2-microdeletion-syndrome-are-there-differences-in-performance-and-neurobiological-substrates-between-tasks-linked-to-ventral-and-dorsal-visual-brain-structures-a-cross-sectional-and-longitudinal-study
#7
Mathilde Bostelmann, Maude Schneider, Maria Carmela Padula, Johanna Maeder, Marie Schaer, Elisa Scariati, Martin Debbané, Bronwyn Glaser, Sarah Menghetti, Stephan Eliez
BACKGROUND: Children affected by the 22q11.2 deletion syndrome (22q11.2DS) have a specific neuropsychological profile with strengths and weaknesses in several cognitive domains. Specifically, previous evidence has shown that patients with 22q11.2DS have more difficulties memorizing faces and visual-object characteristics of stimuli. In contrast, they have better performance in visuo-spatial memory tasks. The first focus of this study was to replicate these results in a larger sample of patients affected with 22q11...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27837421/otologic-and-audiologic-findings-in-22q11-2-deletion-syndrome
#8
E Verheij, A L Kist, A B Mink van der Molen, I Stegeman, G A van Zanten, W Grolman, H G X M Thomeer
Hearing loss is frequently present in the 22q11.2 deletion syndrome. Our aim was to describe the audiologic and otologic features of patients with 22q11.2 deletion syndrome. We conducted a retrospective cohort study in a single tertiary referral center. We reviewed medical files of all patients with 22q11.2 deletion syndrome who visited an otolaryngologist, plastic surgeon or speech therapist, for audiologic or otologic features. Hearing loss was defined as a pure tone average (of 0.5, 1, 2, and 4 kHz) of >20 decibel hearing level...
November 11, 2016: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27832840/the-psychosis-spectrum-in-22q11-2-deletion-syndrome-is-comparable-to-that-of-nondeleted-youths
#9
Sunny X Tang, Tyler M Moore, Monica E Calkins, James J Yi, Adam Savitt, Christian G Kohler, Margaret C Souders, Elaine H Zackai, Donna M McDonald-McGinn, Beverly S Emanuel, Ruben C Gur, Raquel E Gur
BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11DS) is a promising model for studying psychosis risk. Direct comparisons of psychosis features between 22q11DS and nondeleted (ND) individuals are limited by inconsistency and small samples. In the largest study to date, we compare 22q11DS to ND in comorbidities, functioning, cognition, and psychosis features across the full range of overall severity. METHODS: ND youths (n = 150) ages 9 to 24 years were matched to 22q11DS individuals (n = 150) on age and sex, stratifying for presence of psychosis-spectrum disorder...
September 8, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27828960/cortical-morphology-differences-in-subjects-at-increased-vulnerability-for-developing-a-psychotic-disorder-a-comparison-between-subjects-with-ultra-high-risk-and-22q11-2-deletion-syndrome
#10
Geor Bakker, Matthan W A Caan, Wilhelmina A M Vingerhoets, Fabiana da Silva-Alves, Mariken de Koning, Erik Boot, Dorien H Nieman, Lieuwe de Haan, Oswald J Bloemen, Jan Booij, Thérèse A M J van Amelsvoort
INTRODUCTION: Subjects with 22q11.2 deletion syndrome (22q11DS) and subjects with ultra-high risk for psychosis (UHR) share a risk of approximately 30% to develop a psychotic disorder. Studying these groups helps identify biological markers of pathophysiological processes involved in the development of psychosis. Total cortical surface area (cSA), total cortical grey matter volume (cGMV), cortical thickness (CT), and local gyrification index (LGI) of the cortical structure have a distinct neurodevelopmental origin making them important target markers to study in relation to the development of psychosis...
2016: PloS One
https://www.readbyqxmd.com/read/27827293/vitamin-d-deficiency-behavioral-atypicality-anxiety-and-depression-in-children-with-chromosome-22q11-2-deletion-syndrome
#11
L Kelley, A F P Sanders, E A Beaton
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a complex developmental disorder with serious medical, cognitive and emotional symptoms across the lifespan. This genetic deletion also imparts a lifetime risk for developing schizophrenia that is 25-30 times that of the general population. The origin of this risk is multifactorial and may include dysregulation of the stress response and immunological systems in relation to brain development. Vitamin D is involved in brain development and neuroprotection, gene transcription, immunological regulation and influences neuronal signal transduction...
December 2016: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/27822729/-diagnosis-of-22q11-2-deletion-syndrome-in-the-context-of-newly-developed-psychosis
#12
Alexander Kaltenboeck, Fabian Friedrich, Barbara Hinterbuchinger, Zsuzsa Litvan, Nilufar Mossaheb
22q11.2 deletion syndrome (clinically also known as velocardiofacial or DiGeorge syndrome) is the most common human microdeletion syndrome and can be associated with a multitude of clinical features. In this article we report the case of a 22-year-old patient from Austria who was diagnosed with previously unknown 22q11.2 deletion syndrome in the context of newly developed psychosis. Using this case as an example, we then discuss the implications of 22q11.2 deletion syndrome for clinical psychiatric practice...
December 2016: Neuropsychiatrie: Klinik, Diagnostik, Therapie und Rehabilitation
https://www.readbyqxmd.com/read/27801899/analysis-of-induced-pluripotent-stem-cells-carrying-22q11-2-deletion
#13
M Toyoshima, W Akamatsu, Y Okada, T Ohnishi, S Balan, Y Hisano, Y Iwayama, T Toyota, T Matsumoto, N Itasaka, S Sugiyama, M Tanaka, M Yano, B Dean, H Okano, T Yoshikawa
Given the complexity and heterogeneity of the genomic architecture underlying schizophrenia, molecular analyses of these patients with defined and large effect-size genomic defects could provide valuable clues. We established human-induced pluripotent stem cells from two schizophrenia patients with the 22q11.2 deletion (two cell lines from each subject, total of four cell lines) and three controls (total of four cell lines). Neurosphere size, neural differentiation efficiency, neurite outgrowth, cellular migration and the neurogenic-to-gliogenic competence ratio were significantly reduced in patient-derived cells...
November 1, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27798222/predicting-cognition-and-psychosis-in-young-adults-with-22q11-2-deletion-syndrome
#14
Kevin M Antshel, Wanda Fremont, Seetha Ramanathan, Wendy R Kates
OBJECTIVE: To assess the extent to which the trajectories of intellectual, academic achievement, executive functioning, attention, working memory, and emotion recognition tests will be predictive of psychosis in young adults with 22q11.2 deletion syndrome (22q11DS). METHODS: Eighty-two participants with 22q11DS were assessed for psychiatric disorders and neuropsychological functioning with validated instruments. Siblings and community controls were employed as comparison groups...
October 25, 2016: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/27794163/prenatal-diagnosis-of-submicroscopic-chromosomal-aberrations-in-fetuses-with-ventricular-septal-defects-by-chromosomal-microarray-based-analysis
#15
Liu Du, Hong-Ning Xie, Lin-Huan Huang, Ying-Jun Xie, Li-Hong Wu
OBJECTIVES: To evaluate the usefulness of chromosomal microarray analysis in fetuses with ventricular septal defects (VSDs) with or without associated anomalies and normal karyotype. METHODS: Fetuses with VSDs and normal karyotypes were investigated by using an Affymetrix CytoScan HD array. The cases were classified as isolated or nonisolated VSDs. RESULTS: Among the 52 VSD fetuses, 22 (42.3%) had isolated defects and 30 (57.7%) had additional other ultrasound anomalies...
October 28, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27792854/camptodactyly-and-the-22q11-2-deletion-syndrome
#16
Natario L Couser, Chetna K Pande, Jonathan M Walsh, James Tepperberg, Arthur S Aylsworth
We describe a 5-day-old male with minor facial anomalies, a congenital laryngeal web, severe laryngomalacia, and prominent fixed flexion of the proximal interphalangeal joints of digits 2 through 5 bilaterally. A whole genome SNP microarray analysis identified a 2.55 Mb interstitial deletion of 22q11.21, typical of that seen in the DiGeorge and Velocardiofacial syndromes. A review of the literature identifies 10 other cases with camptodactyly. Camptodactyly appears to be an associated but rarely reported anomaly in patients with the 22q11...
October 28, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27787935/large-3-mb-deletions-at-22q11-2-locus-in-parkinson-s-disease-and-schizophrenia
#17
Jia Nee Foo, Jimmy Lee, Louis C Tan, Jianjun Liu, Eng-King Tan
No abstract text is available yet for this article.
October 27, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27786353/longitudinal-study-of-cerebral-surface-morphology-in-youth-with-22q11-2-deletion-syndrome-and-association-with-positive-symptoms-of-psychosis
#18
Petya D Radoeva, Ravi Bansal, Kevin M Antshel, Wanda Fremont, Bradley S Peterson, Wendy R Kates
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a genetic disorder that greatly increases risk of developing schizophrenia. We previously characterized cerebral surface morphology trajectories from late childhood to mid adolescence in a cohort of youth with 22q11DS. Herein, we extend the study period into early adulthood, and describe further the trajectories associated with severe psychiatric symptoms in this cohort. METHODS: Participants included 76 youth with 22q11DS and 30 unaffected siblings, assessed at three timepoints, during which high resolution, anatomic magnetic resonance images were acquired...
October 27, 2016: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/27781034/generalized-epilepsy-and-myoclonic-seizures-in-22q11-2-deletion-syndrome
#19
Vincent Strehlow, Marielle E M Swinkels, Rhys H Thomas, Nora Rapps, Steffen Syrbe, Thomas Dorn, Johannes R Lemke
Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27771655/improvement-in-neurocognitive-manifestations-with-short-term-multidisciplinary-intervention-in-digeorge-syndrome
#20
Samir Dalwai, Elyska DeSa, Deepti Kanade Modak, Ameya Bondre
BACKGROUND: DiGeorge syndrome involves deletion of chromosomal region 22q11.2. CASE CHARACTERISTICS: 3-year-old girl presenting with speech delay showed defiant behaviour and sensory concerns. OUTCOME: Multidisciplinary intervention with parental counselling improved communication and social skills. MESSAGE: Cognitive and behavioral issues in DiGeorge syndrome should be addressed through timely, multidisciplinary intervention...
September 8, 2016: Indian Pediatrics
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