ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Cross-Study Meta-Analysis of Blood Transcriptomes in Type 2 Diabetes.International journal of molecular sciences · 2025Pooled it
- Developmental Convergence Across Diverse Genetic Architectures in Childhood Apraxia of Speech.bioRxiv : the preprint server for biology · 2026Article
- Maternal sleep deprivation reshapes offspring hippocampal development through a Trem2-centered microglial program revealed by single-nucleus and spatial transcriptomics.Molecular psychiatry · 2026Article
- Programmed repair of disease-causing UGA premature termination codons in mammalian brain.Nucleic acids research · 2026Article
- Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders.Frontiers in molecular biosciences · 2026Review
- TAPT1 interacts with SUCO to maintain the homeostasis of newly synthesized proteins and brain development in mice.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases.BMC psychiatry · 2025Article
- Male caregiving experience alters hippocampal neuroplasticity and transcription independent of reproduction in a biparental species.Communications biology · 2025Article
- Chronic hypoxia induces alternative splicing of transcripts in the goldfish brain.Fish physiology and biochemistry · 2025Article
- Hippocampal adenosine-to-inosine RNA editing in sepsis: dynamic changes and influencing factors.Brain communications · 2024Article
- Gene Expression at the Tripartite Synapse: Bridging the Gap Between Neurons and Astrocytes.Advances in neurobiology · 2024Review
- Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs.Translational psychiatry · 2023Article
- Genome-wide tandem repeat expansions contribute to schizophrenia risk.Molecular psychiatry · 2022Article
- Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a NovelFrontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
27 authors at 11 institutions in 5 countries.
Funding
Abstract
purposeIn this study, we aimed to characterize the clinical phenotype of a SHANK1-related disorder and define the functional consequences of SHANK1 truncating variants.
methodsExome sequencing (ES) was performed for six individuals who presented with neurodevelopmental disorders. Individuals were ascertained with the use of GeneMatcher and Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER). We evaluated potential nonsense-mediated decay (NMD) of two variants by making knock-in cell lines of endogenous truncated SHANK1, and expressed the truncated SHANK1 complementary DNA (cDNA) in HEK293 cells and cultured hippocampal neurons to examine the proteins.
resultsES detected de novo truncating variants in SHANK1 in six individuals. Evaluation of NMD resulted in stable transcripts, and the truncated SHANK1 completely lost binding with Homer1, a linker protein that binds to the C-terminus of SHANK1. These variants may disrupt protein-protein networks in dendritic spines. Dispersed localization of the truncated SHANK1 variants within the spine and dendritic shaft was also observed when expressed in neurons, indicating impaired synaptic localization of truncated SHANK1.
conclusionThis report expands the clinical spectrum of individuals with truncating SHANK1 variants and describes the impact these variants may have on the pathophysiology of neurodevelopmental disorders.
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