Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report.

Magdalena Hoptasz, Adam Szczuciński, Jacek Losy

Journal: Neurologia i neurochirurgia polska 2014;48(2):150-3

PMID: 24821643

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.

Address: Department of Clinical Neurology, Clinical Hospital of H. Święcicki by University of Medical Sciences, Poznań, Poland.; 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. Electronic address: [email protected].; Department of Clinical Neurology, Clinical Hospital of H. Święcicki by 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.

DOI: 10.1016/j.pjnns.2013.12.007

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Free resources

Medical:

https://medlineplus.gov/hearingdisordersanddeafnes...

Other Literature Sources:

https://scite.ai/reports/24821643

MeSH Terms: Amino Acid Substitution, DNA, Mitochondrial, Deafness, Female, Humans, MELAS Syndrome, Middle Aged, Mutation, Pedigree, Phenotype