A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.
New mutations in mitochondrial DNA encoded genes of complex I are rarely reported. An infant developed Leigh disease with infantile spasms. Complex I enzyme activity was deficient and response to increasing coenzyme Q concentrations was reduced. Complex I assembly was intact. A new mutation in MT-ND1 m.3928G>C p.V208L, affecting a conserved amino acid in a critical domain, part of the coenzyme Q binding pocket, was present at high heteroplasmy. The unaffected mother did not carry measurable mutant mitochondrial DNA, but concern remained for gonadal mosaicism. Prenatal testing was possible for a subsequent sibling. The ND1 p.V208L mutation causes Leigh disease.
Department of Pediatrics, University of Colorado, 13121 East 17th Avenue, Aurora, CO 80045, USA; Division of Pediatric Neurology, Oregon Health Sciences Center, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA.
Carter D
CD
Wray
Marisa W
MW
Friederich
Desiree
D
du Sart
Sarah
S
Pantaleo
Joél
J
Smet
Cathlin
C
Kucera
Laura
L
Fenton
Gunter
G
Scharer
Rudy
R
Van Coster
Johan L K
JL
Van Hove
D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D013035:Spasm / Q000209:etiology*
D004272:DNA, Mitochondrial
Coenzyme Q binding; EEG; Electron transport chain complex 1; HRM; Infantile spasms; LHON; Leber hereditary optic neuropathy; Leigh disease; MELAS; ND1; PAGE; PCR; electroencephalogram; high resolution melt; mitochondrial DNA; mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes; mtDNA; polyacrylamide gel electrophoresis; polymerase chain reaction