Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
We describe 15 members of a Caucasian family with an apparently homoplasmic T-->C mutation at nucleotide position 9185 (9185T>C) in the mtDNA encoded MTATP6 (ATPase 6) gene. The clinical phenotype is extremely variable and includes late-onset Leigh syndrome (LS), isolated demyelinating peripheral neuropathy and neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP). Following recent reports of this same mutation in a single case and in a family with late-onset LS and NARP-like features, our paper emphasises the role of MTATP6 in LS and expands the associated clinical phenotype further.
Childs
A-M
AM
Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds General Infirmary, Leeds, West Yorkshire, UK. anne-marie.childs@leedsth.nhs.uk
Hutchin
T
T
Pysden
K
K
Highet
L
L
Bamford
J
J
Livingston
J
J
Crow
Y J
YJ
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
C501005:MT-ATP6 protein, human; D025261:Mitochondrial Proton-Translocating ATPases