Genotype-Driven Diagnosis Enables Targeted Pharmacological Treatment in Brunner Syndrome: A Novel Splice-Site MAOA Variant and Case-Based Review.

Abstract excerpt

Brunner syndrome is a rare X-linked neurodevelopmental disorder caused by loss-of-function (LOF) variants in the monoamine oxidase A gene (MAOA), which encodes monoamine oxidase A, a key enzyme involved in the degradation of monoamine neurotransmitters such as serotonin, norepinephrine, and epinephrine. Impaired MAOA activity leads to abnormal monoamine accumulation and disruption of monoaminergic signalling,...

Topics

• Humans
• Male
• Exome Sequencing
• Genotype
• Monoamine Oxidase
• RNA Splice Sites
• Serotonin Antagonists
• X-Linked Intellectual Disability
• Adult