ArticleAmerican journal of human genetics2009
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.BMC genetics · 2018Pooled it
- The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.Nature communications · 2026Article
- Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.Molecular cytogenetics · 2025Article
- Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty.Journal of the Endocrine Society · 2025Review
- A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.International journal of molecular sciences · 2024Article
- Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.Frontiers in genetics · 2021Article
- A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder.Journal of autism and developmental disorders · 2021Article
- O-GlcNAc transferase OGT-1 and the ubiquitin ligase EEL-1 modulate seizure susceptibility in C. elegans.PloS one · 2021Article
- Epitranscriptomic regulation of transcriptome plasticity in development and diseases of the brain.BMB reports · 2020Review
- Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.BMC medical genomics · 2020Article
- Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease.Neural development · 2020Review
- Review
- Methylome profiling of healthy and central precocious puberty girls.Clinical epigenetics · 2018Article
- Incomplete cellular reprogramming of colorectal cancer cells elicits an epithelial/mesenchymal hybrid phenotype.Journal of biomedical science · 2018Article
- A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum.Journal of pediatric genetics · 2018Article
- The Emerging Field of Epitranscriptomics in Neurodevelopmental and Neuronal Disorders.Frontiers in bioengineering and biotechnology · 2018Review
- Identification of sex-specific DNA methylation changes driven by specific chemicals in cord blood in a Faroese birth cohort.Epigenetics · 2018Article
- Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.Genome medicine · 2017Article
- GRASP1 Regulates Synaptic Plasticity and Learning through Endosomal Recycling of AMPA Receptors.Neuron · 2017Article
- Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.PloS one · 2017Article
Corrections and comments
- Erratum issued
Authors and funding
34 authors at 12 institutions in 4 countries.
Funding
Abstract
Submicroscopic copy-number variations make a considerable contribution to the genetic etiology of human disease. We have analyzed subjects with idiopathic mental retardation (MR) by using whole-genome oligonucleotide-based array comparative genomic hybridization (aCGH) and identified familial and de novo recurrent Xp11.22-p11.23 duplications in males and females with MR, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. The size of the duplications ranges from 0.8-9.2 Mb. Most affected females show preferential activation of the duplicated X chromosome. Carriers of the smallest duplication show X-linked recessive inheritance. All other affected individuals present dominant expression and comparable clinical phenotypes irrespective of sex, duplication size, and X-inactivation pattern. The majority of the rearrangements are mediated by recombination between flanking complex segmental duplications. The identification of common clinical features, including the typical EEG pattern, predisposing genomic structure, and peculiar X-inactivation pattern, suggests that duplication of Xp11.22-p11.23 constitutes a previously undescribed syndrome.
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