ArticleAutism research : official journal of the International Society for Autism Research2011
A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
Article in Autism research : official journal of the International Society for Autism Research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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21 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- A meta-analysis of gene expression quantitative trait loci in brain.Translational psychiatry · 2014Pooled it
- Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children.Molecular genetics & genomic medicine · 2026Article
- PLEKHG2 and the PLEKHG family: Linking Rho family GTPases to neural development and disorders.Histology and histopathology · 2025Review
- A Rare Case of Polymicrogyria in an Elderly Individual With Unique Polygenic Underlining.Cureus · 2024Article
- A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.Orphanet journal of rare diseases · 2022Article
- A genotype-first analysis in a cohort of Mullerian anomaly.Journal of human genetics · 2022Article
- Function of SYDE C2-RhoGAP family as signaling hubs for neuronal development deduced by computational analysis.Scientific reports · 2022Article
- Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.Molecular genetics & genomic medicine · 2021Article
- The Spread of Spectrin in Ataxia and Neurodegenerative Disease.Journal of experimental neurology · 2021Article
- Intercalation of a Heterocyclic Ligand between Quartets in a G-Rich Tetrahelical Structure.Chemistry (Weinheim an der Bergstrasse, Germany) · 2020Article
- Hereditary spherocytosis caused by copy number variation in SPTB gene identified through targeted next-generation sequencing.International journal of hematology · 2019Article
- New insights on hereditary erythrocyte membrane defects.Haematologica · 2016Review
- GenoExp: a web tool for predicting gene expression levels from single nucleotide polymorphisms.Bioinformatics (Oxford, England) · 2015Article
- A tetrahelical DNA fold adopted by tandem repeats of alternating GGG and GCG tracts.Nature communications · 2014Article
- RhoGEFs in cell motility: novel links between Rgnef and focal adhesion kinase.Current molecular medicine · 2014Review
- Integrative biological analysis for neuropsychopharmacology.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2014Review
- Role of the axonal initial segment in psychiatric disorders: function, dysfunction, and intervention.Frontiers in psychiatry · 2014Review
- A Case of Autism with Ring Chromosome 14.Iranian journal of public health · 2013Article
- CD4⁺ but not CD8⁺ T cells revert the impaired emotional behavior of immunocompromised RAG-1-deficient mice.Translational psychiatry · 2013Article
- A discovery resource of rare copy number variations in individuals with autism spectrum disorder.G3 (Bethesda, Md.) · 2012Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Autism is a neuro-developmental disorder characterized by deficits in social interaction and communication as well as restricted interests or repetitive behaviors. Cytogenetic studies have implicated large chromosomal aberrations in the etiology of approximately 5-7% of autism patients, and the recent advent of array-based techniques allows the exploration of submicroscopic copy number variations (CNVs). We genotyped a 14-year-old boy with autism, spherocytosis and other physical dysmorphia, his parents, and two non-autistic siblings with the Illumina Human 1M Beadchip as part of a study of the molecular genetics of autism and determined copy number variants using the PennCNV algorithm. We identified and validated a de novo 1.5 Mb microdeletion of 14q23.2-23.3 in our autistic patient. This region contains 15 genes, including spectrin beta (SPTB), encoding a cytoskeletal protein previously associated with spherocytosis, methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), a folate metabolizing enzyme previously associated with bipoloar disorder and schizophrenia, pleckstrin homology domain-containing family G member 3 (PLEKHG3), a guanide nucleotide exchange enriched in the brain, and churchill domain containing protein 1 (CHURC1), homologs of which regulate neuronal development in model organisms. While a similar deletion has previously been reported in a family with spherocytosis, severe learning disabilities, and mild mental retardation, this is the first implication of chr14q23.2-23.3 in the etiology of autism and points to MTHFD1, PLEKHG3, and CHURC1 as potential candidate genes contributing to autism risk.
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