ArticleJournal of medical genetics2019
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 21 citations in OpenAlex.
- Autistic Traits, Pragmatic Difficulties, and Adaptive Outcomes in Williams Syndrome: A Systematic Narrative Review.Children (Basel, Switzerland) · 2026Review
- Genomic evidence for behavioral adaptation of herding dogs.Science advances · 2025Article
- Williams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion.BMJ case reports · 2024Article
- Astrocytic β-catenin signaling via TCF7L2 regulates synapse development and social behavior.Molecular psychiatry · 2024Article
- Genetic Origins of the Two Canis lupus familiaris (Dog) Freight Dog Populations.The Journal of heredity · 2022Article
- Pragmatic Profiles of Adults with Fragile X Syndrome and Williams Syndrome.Brain sciences · 2022Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.Orphanet journal of rare diseases · 2021Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). However, the prevalence of ASD in WBS is 6-10 times higher than in the general population. We have investigated the genetic factors that could contribute to the ASD phenotype in individuals with WBS.
methodsWe studied four males and four females with WBS and a confirmed diagnosis of ASD by the Autism Diagnostic Interview-Revised. We performed a detailed molecular characterisation of the deletion and searched for genomic variants using exome sequencing.
resultsA de novo deletion of 1.55 Mb (6 cases) or 1.83 Mb (2 cases) at 7q11.23 was detected, being in 7/8 patients of paternal origin. No common breakpoint, deletion mechanism or size was found. Two cases were hemizygous for the rare T allele at rs12539160 in
conclusionsThe increased susceptibility to ASD in patients with WBS might be due to additive effects of the common WBS deletion, inherited and de novo rare sequence variants in ASD-related genes elsewhere in the genome, with higher burden of deleterious mutations required for females, and possible hypomorphic variants in the hemizygous allele or
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