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Denver Genetic Laboratories
 

Known Mutations of the Electron Transfer Flavoprotein:Ubiquinone Oxidoreductase (ETF:QO) Gene


 

Please scroll down for all options

Please note: Clinical mutation analysis for GA II (MADD) is performed by
the UCD DNA Diagnostic Laboratory.

Mutations of Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase:

(Please scroll down for all data)

Exon I:

Mutation Base Change Reference
M1T 2T>C Goodman et al, 2002
A12P 34G>C Goodman et al, unpublished, 2002

Intron 1:

Mutation Base Change Reference
     

Exon II:

Mutation Base Change Reference
Truncated protein 36del A Olsen et al, 2003
Truncated protein 45-46insC Olsen et al, 2003
F16C (Neutral) 47T>G Goodman et al, 2002
Truncated protein 51-52insT Olsen et al, 2001
P27S 79C>T Goodman et al, unpublished, 2002
I31T (Neutral) 92T>C Goodman et al, 2002
R41X 121C>T Goodman et al, 2002
Y49C 146A>G Goodman et al, 2002

Intron 2:

Mutation Base Change Reference
     

Exon III:

Mutation Base Change Reference
S82P 244T>C Goodman et al, 2002
S82F 245C>T Goodman et al, 2002

Intron 3:

Mutation Base Change Reference
 --- IVS3+3A>T Olsen et al, 2004

Exon IV:

Mutation Base Change Reference
L138R 413T>G Goodman et al, 2002
Truncated protein 427del7 Goodman et al, 2002

Intron 4:

Mutation Base Change Reference
     

Exon V:

Mutation Base Change Reference
W182X 545G>A Goodman et al, 2002

Intron 5:

Mutation Base Change Reference
     

Exon VI:

Mutation Base Change Reference
D218N 652G>A Goodman et al, 2002
Q222P 665A>C Goodman et al, 2002

Intron 6:

Mutation Base Change Reference
     

Exon VII:

Mutation Base Change Reference
G234R 700G>A Goodman et al, unpublished, 2002
L262F 786G>T Goodman et al, 2002
Q269L 806A>T Olsen et al, 2001

Intron 7:

Mutation Base Change Reference
     

Exon VIII:

Mutation Base Change Reference
     

Intron 8:

Mutation Base Change Reference
     

Exon IX:

Mutation Base Change Reference
L334P 1001T>C Goodman et al, 2002
H346R 1037A>G Goodman et al, 2002
R358S 1074G>C Olsen et al, 2003

Intron 9:

Mutation Base Change Reference
     

Exon X:

Mutation Base Change Reference
     

Intron 10:

Mutation Base Change Reference
     

Exon XI:

Mutation Base Change Reference
R452K 1355G>A Goodman et al, 2002
P456L 1367C>T Goodman et al, 2002
Truncated protein 1392del2 Goodman et al, 2002
G472R 1414G>A Olsen et al, 2003
L486P 1457T>C Goodman et al, unpublished, 2002

Intron 11:

Mutation Base Change Reference
     

Exon XII:

Mutation Base Change Reference
Truncated protein 1623delT Goodman et al, 2002
P562L 1685C>T Goodman et al, 2002

Intron 12:

Mutation Base Change Reference
Skipping of exon 12 IVS12+1G>T Goodman et al, 2002

Exon XIII:

Mutation Base Change Reference
G546X 1726G>T Goodman et al, unpublished, 2004
G611E 1832G>A Goodman et al, 2002



Full References

Goodman et al, 2002
Goodman SI, Binard RJ, Woontner MR, and Frerman FE: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. Molec Genet & Metab 77 (2002) 86-90.

Olsen et al, 2001
Olsen RKJ, Andresen BS, Christensen E, Sunde L, Nielsen JP, and Gregersen N: Elucidation of the ETF/ETF-QO gene structures enables prenatal diagnosis of the mild form of multiple acyl-CoA dehydrogenation deficiency: DNA-based diagnosis in a pregnancy at risk. J Inherit Metab Dis 24 (2001) Suppl 1, 73 (Abst).

Olsen et al, 2003
Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, and Gregersen N: Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 22 (2003) 12-23.

Olsen et al, 2004
Olsen RK, Pourfarzam M, Morris AA, Dias RC, Knudsen I, Andresen BS, Gregersen N, Olpin SE: Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. J Inherit Metab Dis 27 (2004) 671-678.