Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/100253
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dc.contributor.authorPalmer, E.en
dc.contributor.authorLeffler, M.en
dc.contributor.authorRogers, C.en
dc.contributor.authorShaw, M.en
dc.contributor.authorCarroll, R.en
dc.contributor.authorEarl, J.en
dc.contributor.authorCheung, N.en
dc.contributor.authorChampion, B.en
dc.contributor.authorHu, H.en
dc.contributor.authorHaas, S.en
dc.contributor.authorKalscheuer, V.en
dc.contributor.authorGecz, J.en
dc.contributor.authorField, M.en
dc.date.issued2016en
dc.identifier.citationClinical Genetics, 2016; 89(1):120-127en
dc.identifier.issn0009-9163en
dc.identifier.issn1399-0004en
dc.identifier.urihttp://hdl.handle.net/2440/100253-
dc.description.abstractWe 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. The second family had a missense variant in MAOA (p.R45W). Affected males had borderline-mild ID, attention deficit disorder and limited friendships. One had a history of explosive aggression in childhood and episodic symptoms of flushing, headaches and diarrhoea. Their carrier mother had normal intelligence but similar episodic symptoms. Characteristic biochemical abnormalities included high serum serotonin and urinary metanephrines and low urinary 5-hydroxyindoleacetic acid (5-HIAA) and vanillylmandelic acid (VMA). Symptomatic individuals in the second family had particularly high serotonin levels, and treatment with a serotonin reuptake inhibitor and dietary modification resulted in reversal of biochemical abnormalities, reduction of 'serotonergic' symptoms and behavioural improvement. 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. Cautious treatment with a serotonin reuptake inhibitor, dietary modifications and avoidance of medications contraindicated in patients on monoamine oxidase inhibitors can improve symptoms.en
dc.description.statementofresponsibilityE.E. Palmer, M. Leffler, C. Rogers, M. Shaw, R. Carroll, J. Earl, N.W. Cheung, B. Champion, H. Hu, S.A. Haas, V.M. Kalscheuer, J. Gecz, and M. Fielden
dc.language.isoenen
dc.publisherWileyen
dc.rights© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltden
dc.subjectAutism spectrum disorder; Brunner syndrome; diagnosis; intellectual disability; MAO-A deficiency; serotonin; treatmenten
dc.titleNew insights into Brunner syndrome and potential for targeted therapyen
dc.typeJournal articleen
dc.identifier.rmid0030025753en
dc.identifier.doi10.1111/cge.12589en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/628952en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1041920en
dc.identifier.pubid179595-
pubs.library.collectionPaediatrics publicationsen
pubs.library.teamDS14en
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]en
dc.identifier.orcidCarroll, R. [0000-0002-6979-3710]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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