ArticleMolecular cytogenetics2013
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.
Article in Molecular cytogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies.Journal of human genetics · 2024Article
- A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype.Molecular genetics & genomic medicine · 2022Article
- Evolutionary adaptation of the Polycomb repressive complex 2.Epigenetics & chromatin · 2022Review
- Ecological Specialization and Evolutionary Reticulation in Extant Hyaenidae.Molecular biology and evolution · 2021Article
- Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search.Molecular cytogenetics · 2021Article
- JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Mood alterations in mouse models of Spinocerebellar Ataxia type 1.Scientific reports · 2021Article
- Juvenile Huntington's Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data.Frontiers in cell and developmental biology · 2021Review
- Transcriptomic Analysis Reveals Abnormal Expression of Prion Disease Gene Pathway in Brains from Patients with Autism Spectrum Disorders.Brain sciences · 2020Article
- CAPt'n of Actin Dynamics: Recent Advances in the Molecular, Developmental and Physiological Functions of Cyclase-Associated Protein (CAP).Frontiers in cell and developmental biology · 2020Review
- CAP2 deficiency delays myofibril actin cytoskeleton differentiation and disturbs skeletal muscle architecture and function.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.Molecular genetics & genomic medicine · 2019Article
- De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.American journal of medical genetics. Part A · 2017Article
- Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.Nature genetics · 2017Article
- Effects of sex and DTNBP1 (dysbindin) null gene mutation on the developmental GluN2B-GluN2A switch in the mouse cortex and hippocampus.Journal of neurodevelopmental disorders · 2016Article
- The Endosome Localized Arf-GAP AGAP1 Modulates Dendritic Spine Morphology Downstream of the Neurodevelopmental Disorder Factor Dysbindin.Frontiers in cellular neuroscience · 2016Article
- Chromatin-bound RNA and the neurobiology of psychiatric disease.Neuroscience · 2014Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
unlabelled
backgroundThe interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far.
resultsHigh resolution array-CGH identified 1 Mb de novo interstitial deletion in 6p22.3 chromosomal region in a patient affected by severe Intellectual Disability (ID), Autism Spectrum Disorders (ASDs), and electroencephalographic anomalies. This deletion includes ATXN1, DTNBP1, JARID2 and MYLIP genes, known to play an important role in the brain, and the GMPR gene whose function in the nervous system is unknown.
conclusionsWe support the suggestion that ATXN1, DTNBP1, JARID2 and MYLIP are candidate genes for the pathophysiology of ASDs and ID, and we propose that deletion of DTNBP1 and/or JARID2 contributes to the hypotonia phenotype.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.