English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  New insights into Brunner syndrome and potential for targeted therapy

Palmer, E. E., Leffler, M., Rogers, C., Shaw, M., Carroll, R., Earl, J., et al. (2016). New insights into Brunner syndrome and potential for targeted therapy. Clinical Genetics: an international journal of genetics in medicine, 89(1), 120-127. doi:10.1111/cge.12589.

Item is

Files

show Files
hide Files
:
Palmer.pdf (Publisher version), 2MB
Name:
Palmer.pdf
Description:
-
OA-Status:
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
© 2016 John Wiley & Sons A/S
License:
-

Locators

show

Creators

show
hide
 Creators:
Palmer, E. E., Author
Leffler, M., Author
Rogers, C., Author
Shaw, M., Author
Carroll, R., Author
Earl, J., Author
Cheung, N. W., Author
Champion, B., Author
Hu, H., Author
Haas, S. A.1, Author           
Kalscheuer, V. M.2, Author           
Gecz, J., Author
Field, M., Author
Affiliations:
1Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479640              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385702              

Content

show
hide
Free keywords: Brunner syndrome; MAO-A deficiency; autism spectrum disorder; diagnosis; intellectual disability; serotonin; treatment
 Abstract: 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. 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.

Details

show
hide
Language(s): eng - English
 Dates: 2016-01
 Publication Status: Issued
 Pages: 8
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1111/cge.12589
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Clinical Genetics: an international journal of genetics in medicine
  Other : Clin. Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: Copenhagen : Munksgaard.
Pages: - Volume / Issue: 89 (1) Sequence Number: - Start / End Page: 120 - 127 Identifier: ISSN: 0009-9163
CoNE: https://pure.mpg.de/cone/journals/resource/954925391292