ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario.

In conclusion, this study suggests the possible involvement of this gene fusion, together with the other previously identified variants, in ASD. PMID: 31800155 [PubMed - as supplied by publisher]
Source: J Cell Mol Med - Category: Molecular Biology Authors: Tags: J Cell Mol Med Source Type: research

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22q11.2 deletions and duplications are copy number variations (CNVs) that predispose to developmental neuropsychiatric disorders. Both CNVs are associated with autism spectrum disorder (ASD), while the deletion confers disproportionate risk for schizophrenia. Neurobehavioral profiles associated with these reciprocal CNVs in conjunction with brain imaging measures have not been reported.
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Archival Report Source Type: research
Childhood-onset schizophrenia (COS), a very rare and severe chronic psychiatric condition, is defined by an onset of positive symptoms (delusions, hallucinations and disorganized speech or behavior) before the age of 13. COS is associated with other neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder. Copy number variations (CNVs) represent well documented neurodevelopmental disorder risk factors and, recently, de novo single nucleotide variations (SNVs) in genes involved in brain development have also been implicated in the complex genetic architecture of CO...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
In this study, we performed an extensive assessment of the value of CMA for the diagnosis of children with ID/DD in China. Methods: A total of 633 patients diagnosed with DD/ID in West China Second University Hospital, Sichuan University, were recruited from January 2014 to March 2019. The patients were classified into 4 subgroups: isolated DD/ID, DD/ID with multiple congenital anomalies (MCA), isolated autism spectrum disorders (ASDs), and DD/ID with epilepsy. CMA was performed on Affymetrix 750K platform. Results: Among the 633 patients, 127 cases were identified as having pathogenic copy number variations (pCN...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
We present a patient with 17q12 deletion syndrome with significant atopy.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Source Type: research
This article will discuss some medical conditions that might be seen by orthodontists. Also, recommendations and modifications of the orthodontic treatment plan will be discussed thoroughly.Materials and methodsA computerized electronic search of the literature was conducted in Google Scholar and PubMed and was limited to publications in English.ResultsOrthodontic management was studied in cases of Infective endocarditis (IE), Thrombocytopenia, Hemophilia, Sickle cell anemia, Thalassemia, Diabetes mellitus (DM), Thyroid Disorders, Asthma, DiGeorge Syndrome, HIV/AIDS, Organ transplantation, Orthodontic management, Juvenile ...
Source: International Orthodontics - Category: Dentistry Source Type: research
ConclusionThe detailed clinical delineation of the proximal 18q deletions identified in this study should contribute to better understanding of the genotype –phenotype correlations and better long‐term care of patients with this rare syndrome.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Publication date: Available online 5 August 2019Source: The Lancet PsychiatryAuthor(s): Janneke R Zinkstok, Erik Boot, Anne S Bassett, Noboru Hiroi, Nancy J Butcher, Claudia Vingerhoets, Jacob A S Vorstman, Therese A M J van AmelsvoortSummary22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attention-deficit hyperactivity disorder, autism spectrum disorder, anxiety disorders, seizures and epilepsy, and early-onset Parkinson's disease. Preclinical and clinical data reveal substantial ...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
FINDINGSAn international study led by researchers from the Jane and Terry Semel Institute for Neuroscience and Human Behavior at UCLA has found that people who are born with a genetic disease that greatly increases the risk of developing schizophrenia  have distinctive defects and deficiencies in the white matter of their brains. Researchers compared the brains of people with the genetic disorder, 22q11.2 deletion syndrome, to the brains of healthy people and to the brains of people with the disease who do not have schizophrenia.The brain ’s white matter connects different regions of the brain and...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
(Emory Health Sciences) 3q29 deletion syndrome is a strong risk factor for both schizophrenia and autism spectrum disorder. People with the rare condition have a distinct neuropsychiatric profile, researchers found.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
AbstractBackgroundThe 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described.MethodsWe ascertained individuals with 3q29 deletion syndrome (3q29Del, “cases,”n = 93, 58.1% male) and typically developing controls (n = 64, 51.6% male) through the 3q29 registry (https://3q29deletion.patientcrossroads.org). Self-report of neuropsychiatric...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
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