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Presentation of m.3243A>G (MT‐TL1; tRNALeu) variant with focal neurology in infancy
Author(s) -
Mordaunt Dylan A.,
McIntyre Liam C.,
Salvemini Hayley,
Ibrahim Afdal,
Bratkovic Drago,
Ketteridge David,
Scott Hamish S.,
Kassahn Karin S.,
Smith Nicholas
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37161
Subject(s) - lactic acidosis , mitochondrial disease , encephalopathy , medicine , genetics , mutation , pediatrics , neurology , mitochondrial dna , bioinformatics , biology , psychiatry , gene
The Mitochondrial tRNALeu (MT‐TL1) mutation, m.3243A>G constitutes the commonest identified mitochondrial genome mutation. Characteristically, giving rise to MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke‐like episodes), a phenotypic spectrum associated with this genetic variant is now apparent. We report on the first patient with infantile hemiparesis, without comorbid encephalopathy, attributed to this variant. This further expands the recognized disease spectrum and highlights the need to consider mitochondrial genomic mutations in cases of cryptogenic focal neurological deficit in infancy. The potential for genetic disease modifiers is additionally discussed. © 2015 Wiley Periodicals, Inc.