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      Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania, hypersexuality and violence), sleep disorders and mood swings. It was identified in fourteen males from one family in 1993. It has since been discovered in additional families.


      Signs and symptoms


      The following signs and symptoms occur in people with monoamine oxidase A deficiency, which causes Brunner syndrome:

      lack of impulse control
      aggressive or violent outbursts
      ASD or ADHD-like behavioral features
      obsessive behaviors
      difficulties forming friendships
      problems focusing attention
      sleep problems
      trouble falling asleep
      night terrors
      skin flushing
      sweating
      headaches
      diarrhea


      Causes


      Brunner syndrome is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and norepinephrine (noradrenaline). In both mice and humans, a mutation was located on the eighth exon of the MAO-A gene, which created a dysfunctional MAO-A gene. The regular function of MAO-A, breaking down monoamines, is disrupted, and monoamines build up within the brain. Mice that lacked a functional MAO-A gene displayed higher levels of aggression, in comparison to mice with a functional MAO-A gene.


      Diagnosis


      Molecular Diagnosis establishing a mutation in the MAOA gene is possible, but establishing the clinical diagnosis is more challenging, since this condition is a variable spectrum disorder.


      Treatment


      There is no restrictive treatment for Brunner syndrome, although a potential treatment can be established by checking the patient for signs and symptoms and analysing different catabolites in bodily fluids, that would be indicative of excess amount of monoamines in the body and mediating the symptoms by targeting therapy for the most problematic neurotransmitter. For example, if a patient is found having excess amount of serotonin in the blood (hyperserotonemia) and abnormal urine 5-HIAA levels then the patient might benefit from a serotonin reuptake inhibitor and dietary modifications.


      History


      Brunner Syndrome was described in 1993 by H.G. Brunner and his colleagues upon the discovery of a particular genetic defect in male members of a large Dutch family. Brunner found that all of the male family members with this defect reacted aggressively when angry, fearful, or frustrated. The defect discovered was later found to be a mutation in the gene that codes for monoamine oxidase A (MAOA gene). Brunner said that an "MAO-A deficiency is associated with a recognizable behavioural phenotype that included disturbed regulation of impulsive aggression".
      A letter published by Hebebrand and Klug (1995) criticized Brunner's findings for not using strict DSM criteria.


      Society and culture


      Brunner's findings have been used to argue that genetics, rather than decision-making processes, can cause criminal activity. Evidence supporting the genetic defense stems from both Brunner's findings and a series of studies on mice. To prove the correlation between MAO-A deficiency and aggression in courts, it is often contended that individuals cannot be held accountable for their genes, and as a result, should not be held responsible for their dispositions and resulting actions.


      References




      External links

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    Clinical Genetics - 2015 - Palmer - New insights into Brunner syndrome ...

    Clinical Genetics - 2015 - Palmer - New insights into Brunner syndrome ...

    Brunner Syndrome by Moises Quintana on Prezi

    Brunner Syndrome by Moises Quintana on Prezi

    What is Brunner syndrome? – More REF

    What is Brunner syndrome? – More REF

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome | Semantic Scholar

    Brunner Syndrome "Warrior gene" by Trinity Malia on Prezi

    Brunner Syndrome "Warrior gene" by Trinity Malia on Prezi

    Brunner Syndrome disease: Malacards - Research Articles, Drugs, Genes ...

    Brunner Syndrome disease: Malacards - Research Articles, Drugs, Genes ...

    Sindrome de Brunner | PDF

    Sindrome de Brunner | PDF

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    Brunner syndrome - Wikipedia

    Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania , hypersexuality and violence), sleep disorders and mood swings.

    Brunner syndrome | About the Disease | GARD - Genetic and …

    Brunner syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

    BRUNNER SYNDROME: FROM GENETICS TO PSYCHIATRY

    Brunner syndrome is a rare chromosome X-linked recessive inheritance genetic disorder, which causes loss of function of the MAOA gene, leading to a relative increase in monoamines in affected individuals (typically males).

    Entry - #300615 - BRUNNER SYNDROME; BRNRS - OMIM

    Apr 24, 2018 · Brunner syndrome (BRNRS) is an X-linked recessive disorder characterized by impulsive aggressiveness and mildly impaired intellectual development associated with MAOA deficiency (Brunner et al., 1993).

    Brunner syndrome caused by point mutation explained by

    Dec 19, 2022 · Brunner syndrome is a disorder characterized by intellectual disability and impulsive, aggressive behavior associated with deficient function of the monoamine oxidase A (MAO-A) enzyme.

    Brunner syndrome - National Organization for Rare Disorders

    Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.

    Brunner syndrome (Concept Id: C0796275) - National Center for ...

    Brunner syndrome (BRNRS) is an X-linked recessive disorder characterized by impulsive aggressiveness and mildly impaired intellectual development associated with MAOA deficiency (Brunner et al., 1993).

    New insights into Brunner syndrome and potential for targeted

    Brunner syndrome should be considered as a cause of mild ID with paroxysmal behavioural symptoms. It can be screened for with serum/urine metanephrine and serotonin measurement.

    Brunner syndrome caused by point mutation explained by

    Dec 19, 2022 · Brunner syndrome is a disorder characterized by intellectual disability and impulsive, aggressive behavior associated with deficient function of the monoamine oxidase A (MAO-A) enzyme. These symptoms (along with particularly high serotonin levels) have been reported in patients with two missense var …

    Brunner syndrome - NIH Genetic Testing Registry (GTR) - NCBI

    Brunner syndrome (BRNRS) is an X-linked recessive disorder characterized by impulsive aggressiveness and mildly impaired intellectual development associated with MAOA deficiency (Brunner et al., 1993).