ArticleAmerican journal of human genetics2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
65 citing papers in PubMed, 1 synthesis or guideline pooled it, 131 citations in OpenAlex.
- Comprehensive evaluation of the child with intellectual disability or global developmental delays.Pediatrics · 2014Pooled it
- Disruption of major Ptchd1 isoforms causes autistic traits in social behavior and communication.Molecular psychiatry · 2026Article
- Article
- c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report.Journal of medical case reports · 2025Article
- Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.Molecular cytogenetics · 2025Article
- Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.BMC medical genomics · 2024Review
- Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 DisruptCells · 2024Article
- Review
- Further Delineation of Duplications ofInternational journal of molecular sciences · 2022Review
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.Molecular genetics & genomic medicine · 2021Article
- Article
- Lethal variants in humans: lessons learned from a large molecular autopsy cohort.Genome medicine · 2021Article
- Exome sequencing identifies novel and known mutations in families with intellectual disability.BMC medical genomics · 2021Article
- Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.Human mutation · 2021Article
- Caenorhabditis elegans PTR/PTCHD PTR-18 promotes the clearance of extracellular hedgehog-related protein via endocytosis.PLoS genetics · 2021Article
- Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.Frontiers in genetics · 2021Article
- A 22.5 kb deletion inClinical case reports · 2020Article
- Best practices for variant calling in clinical sequencing.Genome medicine · 2020Review
- Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.Molecular genetics & genomic medicine · 2020Article
5 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
24 authors at 7 institutions in 3 countries.
Funding
Abstract
Copy number variants and indels in 251 families with evidence of X-linked intellectual disability (XLID) were investigated by array comparative genomic hybridization on a high-density oligonucleotide X chromosome array platform. We identified pathogenic copy number variants in 10% of families, with mutations ranging from 2 kb to 11 Mb in size. The challenge of assessing causality was facilitated by prior knowledge of XLID-associated genes and the ability to test for cosegregation of variants with disease through extended pedigrees. Fine-scale analysis of rare variants in XLID families leads us to propose four additional genes, PTCHD1, WDR13, FAAH2, and GSPT2, as candidates for XLID causation and the identification of further deletions and duplications affecting X chromosome genes but without apparent disease consequences. Breakpoints of pathogenic variants were characterized to provide insight into the underlying mutational mechanisms and indicated a predominance of mitotic rather than meiotic events. By effectively bridging the gap between karyotype-level investigations and X chromosome exon resequencing, this study informs discussion of alternative mutational mechanisms, such as noncoding variants and non-X-linked disease, which might explain the shortfall of mutation yield in the well-characterized International Genetics of Learning Disability (IGOLD) cohort, where currently disease remains unexplained in two-thirds of families.
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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.