ArticleAmerican journal of human genetics1996
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 65 citations in OpenAlex.
- Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.BMC pediatrics · 2024Review
- X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.Molecular genetics & genomic medicine · 2022Article
- Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.Nature reviews. Neurology · 2022Review
- A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.Molecular medicine reports · 2020Review
- Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster.Scientific reports · 2020Article
- Glial ensheathment of the somatodendritic compartment regulates sensory neuron structure and activity.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.American journal of medical genetics. Part A · 2017Article
- Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.The Indian journal of medical research · 2016Article
- Molecular and morphologic correlates of the alternative lengthening of telomeres phenotype in high-grade astrocytomas.Brain pathology (Zurich, Switzerland) · 2013Article
- α-Thalassemia, mental retardation, and myelodysplastic syndrome.Cold Spring Harbor perspectives in medicine · 2012Article
- Inactivation of X-linked tumor suppressor genes in human cancer.Future oncology (London, England) · 2012Review
- Aberrant calcium/calmodulin-dependent protein kinase II (CaMKII) activity is associated with abnormal dendritic spine morphology in the ATRX mutant mouse brain.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2011Article
- Article
- Alpha thalassaemia-mental retardation, X linked.Orphanet journal of rare diseases · 2006Review
- Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.American journal of human genetics · 2003Article
- ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.Journal of medical genetics · 2000Article
- Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.American journal of human genetics · 1999Article
- Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.Journal of medical genetics · 1999Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have previously reported the isolation of a gene from Xq13 that codes for a putative regulator of transcription (XNP) and has now been shown to be the gene involved in the X-linked alpha-thalassemia with mental retardation (ATR-X) syndrome. The widespread expression and numerous domains present in the putative protein suggest that this gene could be involved in other phenotypes. The predominant expression of the gene in the developing brain, as well as its association with neuron differentiation, indicates that mutations of this gene might result in a mental retardation (MR) phenotype. In this paper we present a family with a splice junction mutation in XNP that results in the skipping of an exon and in the introduction of a stop codon in the middle of the XNP-coding sequence. Only the abnormal transcript is expressed in two first cousins presenting the classic ATR-X phenotype (with alpha-thalassemia and HbH inclusions). In a distant cousin presenting a similar dysmorphic MR phenotype but not having thalassemia, approximately 30% of the XNP transcripts are normal. These data demonstrate that the mode of action of the XNP gene product on globin expression is distinct from its mode of action in brain development and facial morphogenesis and suggest that other dysmorphic mental retardation phenotypes, such as Juberg-Marsidi or some sporadic cases of Coffin-Lowry, could be due to mutations in XNP.
Indexed as
Identifiers
8644709PMC1914575W1519804413What 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.