ArticlePloS one2013
Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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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.
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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.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Systematic Review of Sleep Disturbances and Circadian Sleep Desynchronization in Autism Spectrum Disorder: Toward an Integrative Model of a Self-Reinforcing Loop.Frontiers in psychiatry · 2019Pooled it
- Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.Biomolecules · 2025Review
- Genetic etiology of autism spectrum disorder in the African population: a scoping review.Frontiers in genetics · 2024Article
- Melatonin as a Mediator of the Gut Microbiota-Host Interaction: Implications for Health and Disease.Antioxidants (Basel, Switzerland) · 2023Review
- Yield of array-CGH analysis in Tunisian children with autism spectrum disorder.Molecular genetics & genomic medicine · 2022Article
- Biological correlates of altered circadian rhythms, autonomic functions and sleep problems in autism spectrum disorder.Annals of general psychiatry · 2022Review
- The Reserve/Maximum Capacity of Melatonin's Synthetic Function for the Potential Dimorphism of Melatonin Production and Its Biological Significance in Mammals.Molecules (Basel, Switzerland) · 2021Review
- Mass-spectrometry analysis of the human pineal proteome during night and day and in autism.Journal of pineal research · 2021Article
- Polymorphisms in the ASMT and ADAMTS1 gene may increase litter size in goats.Veterinary medicine and science · 2020Article
- A Comparative Genomics Study on the Molecular Evolution of Serotonin/Melatonin Biosynthesizing Enzymes in Vertebrates.Frontiers in molecular biosciences · 2020Review
- Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.Molecular genetics & genomic medicine · 2019Article
- Identifying Genomic Variations in Monozygotic Twins Discordant for Autism Spectrum Disorder Using Whole-Genome Sequencing.Molecular therapy. Nucleic acids · 2019Article
- A Comparative Genomic and Transcriptomic Survey Provides Novel Insights into N-Acetylserotonin Methyltransferase (ASMT) in Fish.Molecules (Basel, Switzerland) · 2017Article
- The Contribution of Missense Mutations in Core and Rim Residues of Protein-Protein Interfaces to Human Disease.Journal of molecular biology · 2015Article
- Polymorphisms and DNA methylation level in the CpG site of the GHR1 gene associated with mRNA expression, growth traits and hormone level of half-smooth tongue sole (Cynoglossus semilaevis).Fish physiology and biochemistry · 2015Article
- Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.Molecular autism · 2015Article
- Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay.Journal of autism and developmental disorders · 2015Article
- Melatonin in children with autism spectrum disorders: endogenous and pharmacokinetic profiles in relation to sleep.Journal of autism and developmental disorders · 2014Article
- Understanding melatonin receptor pharmacology: latest insights from mouse models, and their relevance to human disease.BioEssays : news and reviews in molecular, cellular and developmental biology · 2014Review
- Altered brain gene expression but not steroid biochemistry in a genetic mouse model of neurodevelopmental disorder.Molecular autism · 2014Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Melatonin is involved in the regulation of circadian and seasonal rhythms and immune function. Prior research reported low melatonin levels in autism spectrum disorders (ASD). ASMT located in pseudo-autosomal region 1 encodes the last enzyme of the melatonin biosynthesis pathway. A previous study reported an association between ASD and single nucleotide polymorphisms (SNPs) rs4446909 and rs5989681 located in the promoter of ASMT. Furthermore, rare deleterious mutations were identified in a subset of patients. To investigate the association between ASMT and autism, we sequenced all ASMT exons and its neighboring region in 398 Chinese Han individuals with autism and 437 healthy controls. Although our study did not detect significant differences of genotypic distribution and allele frequencies of the common SNPs in ASMT between patients with autism and healthy controls, we identified new rare coding mutations of ASMT. Among these rare variants, 4 were exclusively detected in patients with autism including a stop mutation (p.R115W, p.V166I, p.V179G, and p.W257X). These four coding variants were observed in 6 of 398 (1.51%) patients with autism and none in 437 controls (Chi-Square test, Continuity Correction p = 0.032, two-sided). Functional prediction of impact of amino acid showed that p.R115W might affect protein function. These results indicate that ASMT might be a susceptibility gene for autism. Further studies in larger samples are needed to better understand the degree of variation in this gene as well as to understand the biochemical and clinical impacts of ASMT/melatonin deficiency.
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