ArticleJournal of medical genetics2006
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 3 of them syntheses that pooled it.
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Who cites it
92 citing papers in PubMed, 3 syntheses or guidelines pooled it, 214 citations in OpenAlex.
- Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.Journal of psychiatry & neuroscience : JPN · 2018Pooled it
- Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.European journal of human genetics : EJHG · 2018Pooled it
- Endosomal system genetics and autism spectrum disorders: A literature review.Neuroscience and biobehavioral reviews · 2016Pooled it
- Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome.Molecular autism · 2022Trial
- A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome.Molecular autism · 2022Trial
- A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome.Molecular autism · 2021Trial
- Digestive Neurobiology in Autism: From Enteric and Central Nervous System Interactions to Shared Genetic Pathways.International journal of molecular sciences · 2025Review
- Animal Models of Autistic-like Behavior in Rodents: A Scoping Review and Call for a Comprehensive Scoring System.International journal of molecular sciences · 2024Article
- Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.Nature communications · 2024Article
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
- Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.Translational psychiatry · 2023Article
- Postsynaptic Protein Shank3a Deficiency Synergizes with Alzheimer's Disease Neuropathology to Impair Cognitive Performance in the 3xTg-AD Murine Model.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Review
- Shank3 related muscular hypotonia is accompanied by increased intracellular calcium concentrations and ion channel dysregulation in striated muscle tissue.Frontiers in cell and developmental biology · 2023Article
- Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries.Cellular and molecular neurobiology · 2022Review
- Shank promotes action potential repolarization by recruiting BK channels to calcium microdomains.eLife · 2022Article
- Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.Human molecular genetics · 2022Article
- Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders.Scientific reports · 2022Article
- Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.Frontiers in genetics · 2022Article
- Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications.Journal of neurodevelopmental disorders · 2021Review
32 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
Abstract
introductionThe 22q13.3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. We report the molecular characterisation of the deletion breakpoint in two unrelated chromosome 22q13.3 deletion cases.
methodsThe deletions were characterised by FISH, checked for other abnormalities by array-CGH, and confirmed by Real-Time PCR, and finally the breakpoints were cloned, sequenced, and compared.
resultsBoth cases show the cardinal features of the 22q13.3 deletion syndrome associated with a deletion involving the last 100 kb of chromosome 22q13.3. The cases show a breakpoint within the same 15 bp repeat unit, overlapping the results obtained by Wong and colleagues in 1997 and suggesting that a recurrent deletion breakpoint exists within the SHANK3 gene. The direct repeat involved in these 22q13 deletion cases is presumably able to form slipped (hairpin) structures, but it also has a strong potential for forming tetraplex structures. DISCUSSION: Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech. The two cases presented here, having a deletion partially overlapping the commercial subtelomeric probe, highlight the difficulties in interpreting FISH results and suggest that many similar cases may be overlooked.
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