Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

ConclusionOur findings confirm variable expressivity and incomplete penetrance for atypical nested 22q11.2 duplications and identify genes such asPI4KA to be directly relevant to brain development and disorder. We conclude that further work is needed to elucidate the basis of variable neurodevelopmental phenotypes and to exclude the presence of a second disorder. Our findings contribute to the genotype –phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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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
22q11.2 copy number variants are among the most highly penetrant genetic risk variants for developmental neuropsychiatric disorders such as schizophrenia (SCZ) and autism spectrum disorder (ASD). However, the specific mechanisms through which they confer risk remain unclear.
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Archival Report Source Type: research
22q11.2 copy number variants (CNVs) are among the most highly penetrant genetic risk variants for developmental neuropsychiatric disorders such as schizophrenia (SCZ) and autism spectrum disorder (ASD). However, the specific mechanisms through which they confer risk remain unclear.
Source: Biological Psychiatry - Category: Psychiatry Authors: Tags: Archival Report Source Type: research
ConclusionThe presented patient is the second with a pathogenicMBD5 mutation in whom the course of disease is suggestive of early onset dementia starting in her fifth decade. These findings stress the importance of exome sequencing, also in elderly intellectually disabled patients, particularly in those with autism.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
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