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Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

Lookup NU author(s): Dr Helen Tuppen, Professor Bobby McFarlandORCiD, Professor Rita HorvathORCiD, Emeritus Professor Doug Turnbull, Professor Robert Taylor

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Abstract

Mutations of the BCS1L gene are a recognised cause of isolated respiratory chain complex Ill deficiency and underlie several fatal, neonatal mitochondria! diseases. Here we describe a 20-year-old Kenyan woman who initially presented as a floppy infant but whose condition progressed during childhood and adolescence with increasing muscle weakness, focal motor seizures and optic atrophy. Muscle biopsy demonstrated complex III deficiency and the pathogenicity of a novel, homozygous BCS1L mutation was confirmed by yeast complementation studies. Our data indicate that BCS1L mutations can cause a variable, neurological course which is not always fatal in childhood. (C) 2010 Elsevier Inc. All rights reserved.

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Author(s): Tuppen HAL, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He LP, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW

Publication type: Article

Publication status: Published

Journal: Molecular Genetics and Metabolism

Year: 2010

Volume: 100

Issue: 4

Pages: 345-348

Print publication date: 01/08/2010

ISSN (print): 1096-7192

ISSN (electronic): 1096-7206

Publisher: Academic Press

URL: http://dx.doi.org/10.1016/j.ymgme.2010.04.010

DOI: 10.1016/j.ymgme.2010.04.010

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