Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy

Dylan A. Mordaunt; Liam C. McIntyre; Hayley Salvemini; Afdal Ibrahim; Drago Bratkovic; David Ketteridge; Hamish S. Scott; Karin S. Kassahn; Nicholas Smith

doi:10.1002/ajmg.a.37161

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy

Dylan A. Mordaunt, Liam C. McIntyre, Hayley Salvemini, Afdal Ibrahim, Drago Bratkovic, David Ketteridge, Hamish S. Scott, Karin S. Kassahn, Nicholas Smith

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	2697-2701
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	167
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.37161
Publication status	Published - Nov 2015
Externally published	Yes

Keywords

7q36.3 duplication
Hemiparesis
M.3243A>G
Maternally inherited diabetes and deafness (MIDD)
MELAS
NCAPG2
PTPRN2

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1002/ajmg.a.37161Licence: In Copyright

Cite this

@article{b21a5f4f341e4f7baa5f29bb3ffb187b,

title = "Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy",

abstract = "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.",

keywords = "7q36.3 duplication, Hemiparesis, M.3243A>G, Maternally inherited diabetes and deafness (MIDD), MELAS, NCAPG2, PTPRN2",

author = "Mordaunt, {Dylan A.} and McIntyre, {Liam C.} and Hayley Salvemini and Afdal Ibrahim and Drago Bratkovic and David Ketteridge and Scott, {Hamish S.} and Kassahn, {Karin S.} and Nicholas Smith",

year = "2015",

month = nov,

doi = "10.1002/ajmg.a.37161",

language = "English",

volume = "167",

pages = "2697--2701",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "11",

}

TY - JOUR

T1 - Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy

AU - Mordaunt, Dylan A.

AU - McIntyre, Liam C.

AU - Salvemini, Hayley

AU - Ibrahim, Afdal

AU - Bratkovic, Drago

AU - Ketteridge, David

AU - Scott, Hamish S.

AU - Kassahn, Karin S.

AU - Smith, Nicholas

PY - 2015/11

Y1 - 2015/11

N2 - 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.

AB - 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.

KW - 7q36.3 duplication

KW - Hemiparesis

KW - M.3243A>G

KW - Maternally inherited diabetes and deafness (MIDD)

KW - MELAS

KW - NCAPG2

KW - PTPRN2

UR - http://www.scopus.com/inward/record.url?scp=84947023132&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37161

DO - 10.1002/ajmg.a.37161

M3 - Article

C2 - 26289840

AN - SCOPUS:84947023132

SN - 1552-4825

VL - 167

SP - 2697

EP - 2701

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy

Abstract

Keywords

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this