ArticlePloS one2015
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.Journal of psychiatry & neuroscience : JPN · 2018Pooled it
- Article
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
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- Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.Genes · 2022Review
- Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.Frontiers in genetics · 2022Article
- S100B dysregulation during brain development affects synaptic SHANK protein networks via alteration of zinc homeostasis.Translational psychiatry · 2021Article
- Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Genetic Overlap Between Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder inFrontiers in neuroscience · 2021Article
- De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.Human genetics · 2020Article
- Article
- Uncovering the Functional Link BetweenFrontiers in neuroanatomy · 2019Article
- Article
- Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development.Molecular psychiatry · 2018Article
- Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused byMolecular autism · 2018Article
- A Review of Oxytocin and Arginine-Vasopressin Receptors and Their Modulation of Autism Spectrum Disorder.Frontiers in molecular neuroscience · 2018Review
- The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Molecular diagnosis & therapy · 2017Review
- Replicable in vivo physiological and behavioral phenotypes of theMolecular autism · 2017Article
- Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.European journal of human genetics : EJHG · 2016Article
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionClinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD.
methodsWe identified a family segregating ASD in three siblings with an unidentified cause. We performed WGS in the three probands and used a state-of-the-art comprehensive bioinformatic analysis pipeline and prioritized the identified variants located in genes likely to be related to ASD. We validated the finding by Sanger sequencing in the probands and their parents.
resultsThree male siblings presented a syndrome characterized by severe intellectual disability, absence of language, autism spectrum symptoms and epilepsy with negative family history for mental retardation, language disorders, ASD or other psychiatric disorders. We found germline mosaicism for a heterozygous deletion of a cytosine in the exon 21 of the SHANK3 gene, resulting in a missense sequence of 5 codons followed by a premature stop codon (NM_033517:c.3259_3259delC, p.Ser1088Profs*6).
conclusionsWe reported an infrequent form of familial ASD where WGS proved useful in the clinic. We identified a mutation in SHANK3 that underscores its relevance in Autism Spectrum Disorder.
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