ArticleAmerican journal of human genetics2003
Mutational mechanisms of Williams-Beuren syndrome deletions.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
143 citing papers in PubMed, 1 synthesis or guideline pooled it, 342 citations in OpenAlex.
- Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review.The Yale journal of biology and medicine · 2021Pooled it
- Dermatologic manifestations in an adult with Williams syndrome.JAAD case reports · 2026Article
- Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series.Molecular genetics & genomic medicine · 2026Article
- A Del(5PNAS nexus · 2025Article
- Review
- Analysis of clinical audiological characteristics in children with Williams syndrome in China.Orphanet journal of rare diseases · 2025Article
- Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements.Communications biology · 2024Article
- Article
- Williams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion.BMJ case reports · 2024Article
- Contrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms.Scientific reports · 2024Article
- Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome.Journal of neurodevelopmental disorders · 2023Article
- Dysfunctional Mitochondria in the Cardiac Fibers of a Williams-Beuren Syndrome Mouse Model.International journal of molecular sciences · 2023Article
- High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.Genome medicine · 2023Article
- Thirty-Year Survival After Cardiac Surgery in Children With Williams-Beuren Syndrome (from the Pediatric Cardiac Care Consortium Study).The American journal of cardiology · 2023Article
- Article
- Article
- Anterior pituitary, sex hormones, and keratoconus: Beyond traditional targets.Progress in retinal and eye research · 2022Article
- Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.BMC medical genomics · 2022Article
- Quantity as a Fish Views It: Behavior and Neurobiology.Frontiers in neuroanatomy · 2022Review
- Williams syndrome.Nature reviews. Disease primers · 2021Review
83 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Williams-Beuren syndrome (WBS) is a segmental aneusomy syndrome that results from a heterozygous deletion of contiguous genes at 7q11.23. Three large region-specific low-copy repeat elements (LCRs), composed of different blocks (A, B, and C), flank the WBS deletion interval and are thought to predispose to misalignment and unequal crossing-over, causing the deletions. In this study, we have determined the exact deletion size and LCR copy number in 74 patients with WBS, as well as precisely defined deletion breakpoints in 30 of them, using LCR-specific nucleotide differences. Most patients (95%) exhibit a 1.55-Mb deletion caused by recombination between centromeric and medial block B copies, which share approximately 99.6% sequence identity along 105-143 kb. In these cases, deletion breakpoints were mapped at several sites within the recombinant block B, with a cluster (>27%) occurring at a 12 kb region within the GTF2I/GTF2IP1 gene. Almost one-third (28%) of the transmitting progenitors were found to be heterozygous for an inversion between centromeric and telomeric LCRs. All deletion breakpoints in the patients with the inversion occurred in the distal 38-kb block B region only present in the telomeric and medial copies. Finally, only four patients (5%) displayed a larger deletion ( approximately 1.84 Mb) caused by recombination between centromeric and medial block A copies. We propose models for the specific pairing and precise aberrant recombination leading to each of the different germline rearrangements that occur in this region, including inversions and deletions associated with WBS. Chromosomal instability at 7q11.23 is directly related to the genomic structure of the region.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.