ArticleJournal of human genetics2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.
Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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
23 citing papers in PubMed, 75 citations in OpenAlex.
- Reduced expression of Brain Expressed X-linked genes in Alzheimer's disease.Journal of Alzheimer's disease : JAD · 2026Article
- Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.Journal of human genetics · 2026Article
- Article
- Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures.Journal of human genetics · 2024Article
- A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.Human genome variation · 2024Article
- Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.European journal of human genetics : EJHG · 2024Article
- Haploinsufficiency ofIntractable & rare diseases research · 2024Article
- Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.Annals of clinical and translational neurology · 2023Article
- Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review.BMC medical genomics · 2023Review
- PLP1 gene mutations cause spastic paraplegia type 2 in three families.Annals of clinical and translational neurology · 2023Article
- TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.American journal of human genetics · 2022Article
- Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.Intractable & rare diseases research · 2022Article
- Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.Human genetics · 2020Article
- Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions.Genome biology · 2020Article
- Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing.Journal of human genetics · 2020Article
- Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.Human mutation · 2020Article
- Abnormal mGluR-mediated synaptic plasticity and autism-like behaviours in Gprasp2 mutant mice.Nature communications · 2019Article
- Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion.Human genome variation · 2019Article
- Neurogenetics of Pelizaeus-Merzbacher disease.Handbook of clinical neurology · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The majority of Xq22 duplications seen in patients with Pelizaeus-Merzbacher disease (PMD) include proteolipid protein 1 (PLP1), the gene responsible for PMD, and neighboring genes. Some cases result from larger duplications up to 7 Mb in size. In comparison, the deletions including PLP1 seen in PMD patients are small. In this study, we present the genetic and clinical information for five female patients with deletions involving the Xq22 region, and review the correlation between the genotype and phenotype. Three of the five patients show similar large deletions (>3 Mb) ranging from Xq22.1 to Xq22.3 and all manifest severe intellectual disability, hypotonia and behavioral abnormalities. The most striking similarity among them are the behavioral problems, including poor eye contact and sleep disturbance. We propose that this represents an emerging distinctive microdeletion syndrome encompassing PLP1 in female patients. The possible candidate region responsible for such distinctive features has been narrowed down to the neighboring region for PLP1, including the interleukin 1 receptor accessory protein-like 2 (IL1RAPL2) gene and the clustered brain expressed X-linked (BEX) genes. The gene(s) responsible for severe neurological features in the patients in this study would be located in the regions proximate to PLP1; thus, males with the deletions involving the gene(s) would be lethal, and finally, the sizes of the deletions in PMD patients would be smaller than those of the duplications.
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.