ArticleHuman genetics2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 48 citations in OpenAlex.
- Review
- The life and times of a tRNA.RNA (New York, N.Y.) · 2023Review
- The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.Life science alliance · 2023Article
- Article
- An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.Human mutation · 2020Article
- Review
- Lack of 2'-O-methylation in the tRNA anticodon loop of two phylogenetically distant yeast species activates the general amino acid control pathway.PLoS genetics · 2018Article
- The Emerging Field of Epitranscriptomics in Neurodevelopmental and Neuronal Disorders.Frontiers in bioengineering and biotechnology · 2018Review
- Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.Human mutation · 2015Article
- Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.Genome biology · 2015Article
- Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease.Molecular cytogenetics · 2015Article
- Conservation of an intricate circuit for crucial modifications of the tRNAPhe anticodon loop in eukaryotes.RNA (New York, N.Y.) · 2015Article
- Modify or die?--RNA modification defects in metazoans.RNA biology · 2014Review
- Two-subunit enzymes involved in eukaryotic post-transcriptional tRNA modification.RNA biology · 2014Review
- Yeast Trm7 interacts with distinct proteins for critical modifications of the tRNAPhe anticodon loop.RNA (New York, N.Y.) · 2012Article
- CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.Molecular syndromology · 2012Article
- A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.The Journal of molecular diagnostics : JMD · 2009Article
- Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.European journal of human genetics : EJHG · 2009Article
- 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.American journal of human genetics · 2009Article
- Epigenetic principles and mechanisms underlying nervous system functions in health and disease.Progress in neurobiology · 2008Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Using high resolution X chromosome array-CGH we identified an interstitial microdeletion at Xp11.23 in three brothers with moderate to severe mental retardation (MR) without dysmorphic features. The extent of the deletion was subsequently delineated to about 50 kb by regular PCR and included only the SLC38A5 and FTSJ1 genes. The loss of the FTSJ1 MR gene in males is expected to result in the observed phenotype but the contribution of the deletion of the solute carrier SLC38A5 gene is less clear. Their mother also carries the deletion and completely inactivates the aberrant X chromosome. Interestingly, the distal breakpoint is situated within a 200 kb SSX repeat region that appears to stimulate recombination since subtle copy number changes often occur at this location and it is frequently involved in translocations in tumours. Since this apparent SSX unstable structure is flanked proximally by FTSJ1 and PQBP1, subtle deletions or duplications at this location would be expected to cause MR, as in our family. So far, we have screened a cohort of 300 patients but did not find additional aberrations at the FTSJ1 locus indicating that the frequency is likely to be low.
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.