ArticleEuropean journal of human genetics : EJHG2010
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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
24 citing papers in PubMed, 53 citations in OpenAlex.
- Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.Biomolecules · 2025Review
- Type A monoamine oxidase; its unique role in mood, behavior and neurodegeneration.Journal of neural transmission (Vienna, Austria : 1996) · 2025Review
- Integration of Long Non-Coding RNA and mRNA Profiling Reveals the Mechanisms of Different Dietary NFC/NDF Ratios Induced Rumen Development in Calves.Animals : an open access journal from MDPI · 2022Article
- Abnormal brain development of monoamine oxidase mutant zebrafish and impaired social interaction of heterozygous fish.Disease models & mechanisms · 2022Article
- Copper Concentrations in Ketamine Therapy for Treatment-Resistant Depression.Brain sciences · 2020Article
- Anesthetic management in MAO-A and MAO-B deficiency: a case report.Journal of anesthesia · 2020Article
- A proposed nosology of inborn errors of metabolism.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism.Communications biology · 2019Article
- From aggression to autism: new perspectives on the behavioral sequelae of monoamine oxidase deficiency.Journal of neural transmission (Vienna, Austria : 1996) · 2018Review
- Clinical and genetic analysis of Indian patients with NDP-related retinopathies.International ophthalmology · 2018Article
- A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.Journal of genetics · 2017Article
- Monoaminergic Mechanisms in Epilepsy May Offer Innovative Therapeutic Opportunity for Monoaminergic Multi-Target Drugs.Frontiers in neuroscience · 2016Review
- Reactive Oxygen-Related Diseases: Therapeutic Targets and Emerging Clinical Indications.Antioxidants & redox signaling · 2015Review
- Monoamine neurotransmitter disorders--clinical advances and future perspectives.Nature reviews. Neurology · 2015Review
- 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.European journal of human genetics : EJHG · 2014Article
- Evaluation of heritable determinants of blood and brain serotonin homeostasis using recombinant inbred mice.Genes, brain, and behavior · 2014Article
- Mutations in monoamine oxidase (MAO) genes in mice lead to hypersensitivity to serotonin-enhancing drugs: implications for drug side effects in humans.The pharmacogenomics journal · 2013Article
- Cognitive abnormalities and hippocampal alterations in monoamine oxidase A and B knockout mice.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Monoamine oxidase A and A/B knockout mice display autistic-like features.The international journal of neuropsychopharmacology · 2013Article
- De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: a genomics approach to personalized medicine.European journal of medical genetics · 2012Article
Corrections and comments
- Commented on by
Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3-p11.4, which encompasses both monoamine oxidase genes but, unlike other published reports, does not affect the adjacent Norrie disease gene (NDP). The brothers who inherited the deletion, and thus have no monoamine oxidase function, presented with severe developmental delay, intermittent hypotonia and stereotypical hand movements. The clinical features accord with published reports of larger microdeletions and selective MAO-A and MAO-B deficiencies in humans and mouse models and suggest considerable functional compensation between MAO-A and MAO-B under normal conditions.
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.