Article
New insights into Brunner syndrome and potential for targeted therapy.
Clinical genetics - 1 Jan 2016
Palmer E E, Leffler M, Rogers C, Shaw M, Carroll R, Earl J, Cheung N W, Champion B, Hu H, Haas S A, Kalscheuer V M, Gecz J, Field M
Abstract excerpt
We report two families with Brunner syndrome living in one state of Australia. The first family had a predicted protein-truncating variant of monoamine oxidase A (MAOA) (p.S251KfsX2). Affected males had mild intellectual disability (ID), obsessive behaviour, limited friendships and were introverted and placid during clinical interview. The family disclosed episodic explosive aggression after a diagnosis was made....
Topics
- Aggression
- Amino Acid Sequence
- Disruptive, Impulse Control, and Conduct Disorders
- Exome
- Genes, X-Linked
- Genetic Association Studies
- Genetic Diseases, X-Linked
- Genetic Loci
- High-Throughput Nucleotide Sequencing
- Humans
- Intellectual Disability
- Male
- Middle Aged