ArticleEuropean journal of human genetics : EJHG2014
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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
28 citing papers in PubMed, 83 citations in OpenAlex.
- Genotype-Driven Diagnosis Enables Targeted Pharmacological Treatment in Brunner Syndrome: A Novel Splice-SiteInternational journal of molecular sciences · 2026Review
- Investigation of Electrostatic Effects on Enyzme Catalysis: Insights from Computational Simulations of Monoamine Oxidase A Pathological Variants Leading to the Brunner Syndrome.Journal of chemical information and modeling · 2025Article
- Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.Biomolecules · 2025Review
- REM sleep behavior disorder in Brunner syndrome.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2024Article
- MAOA methylation is associated with impulsive and antisocial behaviour: dependence on allelic variation, family environment and diet.Journal of neural transmission (Vienna, Austria : 1996) · 2024Article
- Brunner syndrome caused by point mutation explained by multiscale simulation of enzyme reaction.Scientific reports · 2022Article
- Abnormal brain development of monoamine oxidase mutant zebrafish and impaired social interaction of heterozygous fish.Disease models & mechanisms · 2022Article
- Monoamine oxidase A activity in fibroblasts as a functional confirmation ofJIMD reports · 2021Article
- From warrior genes to translational solutions: novel insights into monoamine oxidases (MAOs) and aggression.Translational psychiatry · 2021Review
- The role of monoamine oxidase A in the neurobiology of aggressive, antisocial, and violent behavior: A tale of mice and men.Progress in neurobiology · 2020Review
- How Monoamine Oxidase A Decomposes Serotonin: An Empirical Valence Bond Simulation of the Reactive Step.The journal of physical chemistry. B · 2020Article
- Paradoxical Effects of a Cytokine and an Anticonvulsant Strengthen the Epigenetic/Enzymatic Avenue for Autism Research.Frontiers in cellular neuroscience · 2020Article
- Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.Annals of clinical and translational neurology · 2019Article
- Offline encoding impaired by epigenetic regulations of monoamines in the guided propagation model of autism.BMC neuroscience · 2018Article
- From aggression to autism: new perspectives on the behavioral sequelae of monoamine oxidase deficiency.Journal of neural transmission (Vienna, Austria : 1996) · 2018Review
- Exome Pool-Seq in neurodevelopmental disorders.European journal of human genetics : EJHG · 2017Article
- Serotonin neuron abnormalities in the BTBR mouse model of autism.Autism research : official journal of the International Society for Autism Research · 2017Article
- Polymorphisms in the canine monoamine oxidase a (Canine genetics and epidemiology · 2017Article
- The role of monoamine oxidase A in aggression: Current translational developments and future challenges.Progress in neuro-psychopharmacology & biological psychiatry · 2016Review
- MAOA Influences the Trajectory of Attentional Development.Frontiers in human neuroscience · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Intellectual disability (ID) is characterized by an extraordinary genetic heterogeneity, with >250 genes that have been implicated in monogenic forms of ID. Because this complexity precluded systematic testing for mutations and because clinical features are often non-specific, for some of these genes only few cases or families have been unambiguously documented. It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. We have performed targeted high-throughput sequencing of 220 genes, including MAOA, in patients with undiagnosed ID. We identified a c.797_798delinsTT (p.C266F) missense mutation in MAOA in a boy with autism spectrum disorder, attention deficit and autoaggressive behavior. Two maternal uncles carry the mutation and have severe ID, with a history of maltreatment in early childhood. This novel missense mutation decreases MAOA enzymatic activity, leading to abnormal levels of urinary monoamines. The identification of this new point mutation confirms, for the first time since 1993, the monogenic implication of the MAOA gene in ID of various degrees, autism and behavioral disturbances. The variable expressivity of the mutation observed in male patients of this family may involve gene-environment interactions, and the identification of a perturbation in monoamine metabolism should be taken into account when prescribing psychoactive drugs in such patients.
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.