UCHSC BGLab Table of ETF:QO mutations

UCD Biochemical Genetics Laboratory
Dr. Stephen I. Goodman, MD
Department of Pediatrics
University of Colorado Denver

Known Mutations of the Electron Transfer Flavoprotein:Ubiquinone
Oxidoreductase (ETF:QO) Gene
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Please note: Clinical mutation analysis for GA II (MADD) is performed by
the UCD DNA Diagnostic Laboratory.

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Mutations of Electron Transfer Flavoprotein:Ubiquinone Oxidoreductase:
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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C	Goodman et al, unpublished, 2002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T	Goodman et al, unpublished, 2002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A	Goodman et al, unpublished, 2002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.

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