Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.
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.
Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.|Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, North Adelaide, Australia.
Dylan A
DA
Mordaunt
Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
Liam C
LC
McIntyre
Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
Hayley
H
Salvemini
Department of Paediatrics, Lyell McEwin Health Service, Elizabeth Vale, Australia.
Afdal
A
Ibrahim
Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
Drago
D
Bratkovic
Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
David
D
Ketteridge
Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.|Centre for Cancer Biology and ACRF South Australian Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.|School of Medicine, School of Biological Sciences, University of Adelaide, North Adelaide, Australia.
Hamish S
HS
Scott
Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.|School of Medicine, School of Biological Sciences, University of Adelaide, North Adelaide, Australia.
Karin S
KS
Kassahn
Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, North Adelaide, Australia.|Department of Neurology, Women's and Children's Hospital, North Adelaide, Australia.|Robinson Research Institute, University of Adelaide, North Adelaide, Australia.
Nicholas
N
Smith
D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D012356:RNA, Transfer, Leu / Q000235:genetics*; D017422:Sequence Analysis, DNA
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu
7q36.3 duplication; MELAS; NCAPG2; PTPRN2; hemiparesis; m.3243A>G; maternally inherited diabetes and deafness (MIDD)