ArticleTranslational psychiatry2012
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Article in Translational psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01867554 (Recherche et caractérisation de Nouveaux gènes impliqués Dans la déficience Intellectuelle.), which is not on this map. Cited by 60 papers.
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.
Recherche et caractérisation de Nouveaux gènes impliqués Dans la déficience Intellectuelle.
Who cites it
60 citing papers in PubMed, 109 citations in OpenAlex.
- USP15 mutation associated with autism spectrum disorder alters progenitor fate and neuronal maturation in human brain organoids.Molecules and cells · 2026Article
- Artificial intelligence in drug research and development: a review of methods and applications in drug repurposing.Briefings in bioinformatics · 2026Review
- Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Biomolecules · 2026Article
- Autism Spectrum Disorder, Oral Implications, and Oral Microbiota.Children (Basel, Switzerland) · 2025Review
- Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.Psychiatry and clinical neurosciences · 2025Article
- Gene Expression Profiling in the Cortex of Fabp4 Knockout Mice.Neuropsychopharmacology reports · 2025Article
- Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.Journal of the Royal Society of New Zealand · 2025Article
- X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in theInternational medical case reports journal · 2025Article
- PHF8/KDM7B: A Versatile Histone Demethylase and Epigenetic Modifier in Nervous System Disease and Cancers.Epigenomes · 2024Review
- Article
- Brain development and bioenergetic changes.Neurobiology of disease · 2024Review
- Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease.Metabolic brain disease · 2023Article
- KDM7 Demethylases: Regulation, Function and Therapeutic Targeting.Advances in experimental medicine and biology · 2023Article
- The genetics of autism and steroid-related traits in prenatal and postnatal life.Frontiers in endocrinology · 2023Article
- Variants inHGG advances · 2022Article
- The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren.Frontiers in artificial intelligence · 2022Article
- Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.Molecular neurobiology · 2021Article
- Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia.Cancers · 2021Review
- Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease.Neural development · 2020Review
- The Role of Lipidomics in Autism Spectrum Disorder.Molecular diagnosis & therapy · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The striking excess of affected males in autism spectrum disorders (ASD) suggests that genes located on chromosome X contribute to the etiology of these disorders. To identify new X-linked genes associated with ASD, we analyzed the entire chromosome X exome by next-generation sequencing in 12 unrelated families with two affected males. Thirty-six possibly deleterious variants in 33 candidate genes were found, including PHF8 and HUWE1, previously implicated in intellectual disability (ID). A nonsense mutation in TMLHE, which encodes the ɛ-N-trimethyllysine hydroxylase catalyzing the first step of carnitine biosynthesis, was identified in two brothers with autism and ID. By screening the TMLHE coding sequence in 501 male patients with ASD, we identified two additional missense substitutions not found in controls and not reported in databases. Functional analyses confirmed that the mutations were associated with a loss-of-function and led to an increase in trimethyllysine, the precursor of carnitine biosynthesis, in the plasma of patients. This study supports the hypothesis that rare variants on the X chromosome are involved in the etiology of ASD and contribute to the sex-ratio disequilibrium.
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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.