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Licensed Unlicensed Requires Authentication Published by De Gruyter March 9, 2016

Leigh syndrome associated with a novel mutation in the COX15 gene

  • Mohammad Miryounesi , Majid Fardaei , Seyed Mohammadbagher Tabei and Soudeh Ghafouri-Fard EMAIL logo


Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with a diverse range of symptoms, such as psychomotor delay or regression, weakness, hypotonia, truncal ataxia, intention tremor as well as lactic acidosis in the blood, cerebrospinal fluid or urine. Both nuclear gene defects and mutations of the mitochondrial genome have been detected in these patients. Here we report a 7-year-old girl with hypotonia, tremor, developmental delay and psychomotor regression. However, serum lactate level as well as brain magnetic resonance imaging were normal. Mutational analysis has revealed a novel mutation in exon 4 of COX15 gene (c.415C>G) which results in p.Leu139Val. Previous studies have demonstrated that COX15 mutations are associated with typical LS as well as fatal infantile hypertrophic cardiomyopathy. Consequently, clinical manifestations of COX15 mutations may be significantly different in patients. Such information is of practical importance in genetic counseling.

Correction note:

Correction added after online publication March 9, 2016: Mistakenly this article was previously published online ahead of print containing wrong names for 2 authors: Majid Faraei, Seyed Mohammad Bagher Tabei.

The correct names are: Majid Fardaei, Seyed Mohammadbagher Tabei.

Corresponding author: Soudeh Ghafouri-Fard, Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran, E-mail:

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Received: 2015-10-5
Accepted: 2016-1-4
Published Online: 2016-3-9
Published in Print: 2016-6-1

©2016 by De Gruyter

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