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A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

Lookup NU author(s): Professor Robert Taylor, Dr Margaret Johnson, Professor Zofia Chrzanowska-LightowlersORCiD, Dr Andrew Morris, Emeritus Professor Doug Turnbull

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Abstract

We report a novel, heteroplasmic point mutation in the mitochondrial tRNA for tryptophan at position 5532. The mutation was present in all the tissues studied and segregated with the biochemical defect, with higher levels of mutation present in cytochrome c oxidase-deficient muscle fibres. The patient manifested a neurogastrointestinal syndrome with features including failure to thrive, psychomotor retardation, ophthalmoplegia, sensorineural deafness and encephalopathy together with vomiting, diarrhoea and colitis. © 2004 Nature Publishing Group All rights reserved.

Publication metadata

Author(s): Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AAM, Charlton CPJ, Turnbull DM, Bindoff LA

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2004

Volume: 12

Issue: 6

Pages: 509-512

Print publication date: 01/06/2004

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: European Society of Human Genetics

URL: http://dx.doi.org/10.1038/sj.ejhg.5201185

DOI: 10.1038/sj.ejhg.5201185

PubMed id: 15054399

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