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Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report
Affiliations- Department of Clinical Neurology, Clinical Hospital of H. Święcicki by University of Medical Sciences, Poznań, Poland
- Department of Neurochemistry and Neuropathology, University of Medical Sciences, Poznań, Poland
- Department of Clinical Neuroimmunology, Chair of Neurology, University of Medical Sciences, Poznań, Poland
- Neuroimmunological Unit, Institute of Experimental and Clinical Medicine, Polish Academy of Sciences, Poznań, Poland
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Abstract
The A3243G mutation is one of the most frequent mutations of mitochondrial DNA. The phenotypic expression of the A3243G mutation is variable and causes a wide range of syndromic and non-syndromic clinical disorders. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is the most frequent syndromic manifestation of the A3243G mutation. Stroke-like episodes seem to be the dominant feature of MELAS. We have investigated the case of a family with A3243G mutation, in which a dominant symptom in three generations was the maternally inherited hearing loss with absence of stroke-like episodes. Besides deafness, we found also other clinical features such as myopathy, neuropathy, migraine, ataxia, short stature, diabetes mellitus, and cardiomyopathy.
Abstract
The A3243G mutation is one of the most frequent mutations of mitochondrial DNA. The phenotypic expression of the A3243G mutation is variable and causes a wide range of syndromic and non-syndromic clinical disorders. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is the most frequent syndromic manifestation of the A3243G mutation. Stroke-like episodes seem to be the dominant feature of MELAS. We have investigated the case of a family with A3243G mutation, in which a dominant symptom in three generations was the maternally inherited hearing loss with absence of stroke-like episodes. Besides deafness, we found also other clinical features such as myopathy, neuropathy, migraine, ataxia, short stature, diabetes mellitus, and cardiomyopathy.
Keywords
Mitochondrial disorder, A3243G mutation, Maternally inherited deafness, Mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes
About this articleTitle
Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
150-153
Page views
387
Article views/downloads
5719
DOI
10.1016/j.pjnns.2013.12.007
Bibliographic record
Neurol Neurochir Pol 2014;48(2):150-153.
Keywords
Mitochondrial disorder
A3243G mutation
Maternally inherited deafness
Mitochondrial encephalomyopathy
lactic acidosis and strokelike episodes
Authors
Magdalena Hoptasz
Adam Szczuciński
Jacek Losy
