ArticleBMC medical genomics2022
Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.
Article in BMC medical genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 21 citations in OpenAlex.
- Disrupting fzd9b in Zebrafish Recapitulates Stress- and Anxiety-Like Behaviours Relevant to Williams Syndrome.Molecular neurobiology · 2026Article
- Syntaxin1A in synaptopathies: From molecular mechanisms to therapeutic implications in neurological disorders (Review).Biomedical reports · 2026Review
- [Characteristics of early cognitive development in children with Williams syndrome: a prospective cohort study].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Article
- The Effect of Sow Maternal Behavior on the Growth of Piglets and a Genome-Wide Association Study.Animals : an open access journal from MDPI · 2023Article
- Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder.European journal of human genetics : EJHG · 2023Article
- G protein-coupled receptors in neurodegenerative diseases and psychiatric disorders.Signal transduction and targeted therapy · 2023Review
- Striatal Syntaxin 1A Is Associated with Development of Tourette Syndrome in an Iminodipropionitrile-Induced Animal Model.Disease markers · 2022Article
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13 authors at 3 institutions in 1 country.
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Abstract
Genes associated with specific neurocognitive phenotypes in Williams-Beuren syndrome are still controversially discussed. This study identified nine patients with atypical deletions out of 111 patients with Williams-Beuren syndrome; these deletions included seven smaller deletions and two larger deletions. One patient had normal neurodevelopment with a deletion of genes on the distal side of the Williams-Beuren syndrome chromosomal region, including GTF2I and GTF2IRD1. However, another patient retained these genes but showed neurodevelopmental abnormalities. By comparing the genotypes and phenotypes of patients with typical and atypical deletions and previous reports in the literature, we hypothesize that the BAZ1B, FZD9, and STX1A genes may play an important role in the neurodevelopment of patients with WBS.
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