SA15 THE EMORY 3Q29 DELETION PROJECT: PROFILES OF NEURODEVELOPMENTAL AND NEUROPSYCHIATRIC PHENOTYPES
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.087
Abstract: Background 3q29 Deletion Syndrome (3q29DS) is a rare (~1:30000) genomic disorder characterized by a 1.6 Mb deletion on chromosome 3, and is associated with developmental delay, intellectual disability, and a significantly increased risk for neuropsychiatric disorders,… read more here.
Keywords: prevalence asd; diagnosis asd; 3q29 deletion; deletion ... See more keywords
Psychiatric-disorder-related behavioral phenotypes and cortical hyperactivity in a mouse model of 3q29 deletion syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Neuropsychopharmacology"
DOI: 10.1038/s41386-019-0441-5
Abstract: Abstract3q29 microdeletion, a rare recurrent copy number variant (CNV), greatly confers an increased risk of psychiatric disorders, such as schizophrenia and autism spectrum disorder (ASD), as well as intellectual disability. However, disease-relevant cellular phenotypes of… read more here.
Keywords: deletion; 3q29 deletion; deletion syndrome; mouse model ... See more keywords
Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome
Sign Up to like & getrecommendations! Published in 2021 at "Translational Psychiatry"
DOI: 10.1038/s41398-021-01435-2
Abstract: The 3q29 deletion (3q29Del) confers high risk for schizophrenia and other neurodevelopmental and psychiatric disorders. However, no single gene in this interval is definitively associated with disease, prompting the hypothesis that neuropsychiatric sequelae emerge upon… read more here.
Keywords: 3q29 genes; 3q29 deletion; human neural; convergent distributed ... See more keywords
Metabolic effects of the schizophrenia-associated 3q29 deletion
Sign Up to like & getrecommendations! Published in 2022 at "Translational Psychiatry"
DOI: 10.1038/s41398-022-01824-1
Abstract: The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric phenotypes, including a 40-fold increased risk for schizophrenia. Reduced birth weight and a high prevalence of feeding disorders in patients suggest underlying metabolic dysregulation. We… read more here.
Keywords: hfd; deletion associated; 3q29 deletion; del16 bdh1 ... See more keywords
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care
Sign Up to like & getrecommendations! Published in 2021 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-01053-1
Abstract: Purpose To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care.… read more here.
Keywords: 3q29 deletion; deletion; phenotyping 3q29; deep phenotyping ... See more keywords
Understanding the neuropsychological effects of 3q29 deletion Syndrome: A fraternal twin case study
Sign Up to like & getrecommendations! Published in 2020 at "Applied Neuropsychology: Child"
DOI: 10.1080/21622965.2020.1757445
Abstract: Abstract In 2005, the 3q29 Deletion Syndrome was identified and defined as a rare chromosomal anomaly that effects approximately one in 30,000–40,000 children. It has a complex neuropsychiatric profile but often results in developmental delay,… read more here.
Keywords: deletion syndrome; understanding neuropsychological; case study; 3q29 deletion ... See more keywords