Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brunner syndrome

Brunner syndrome is an x-linked recessive disordercaused by mutations of the MAOA gene. It is characterized by impulsive aggressiveness and mild mental retardation.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
MAOA
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Brunner HG et al. (1993) Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.

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2.

Brunner HG et al. (1993) X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

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3.

Hebebrand J et al. (1995) Specification of the phenotype required for men with monoamine oxidase type A deficiency.

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Update: Sept. 26, 2018