UCHSC BGLab Table of Glutaryl-CoA Dehydrogenase mutations

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

Known Mutations of the Glutaryl-CoA Dehydrogenase Gene
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Please note: Clinical mutation analysis for GA I is performed by
the UCD DNA Diagnostic Laboratory.

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Mutations of Glutaryl-CoA Dehydrogenase:
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Exon I:

Mutation	Base Change	Reference

Intron 1:

Mutation	Base Change	Reference
---	IVS1+5G>T	Greenberg et al, 1995

Exon II:

Mutation	Base Change	Reference

Intron 2:

Mutation	Base Change	Reference
---	IVS2-2A>C	Zschocke et al, 2000

Exon III:

Mutation	Base Change	Reference
W50C	150G>C	Zschocke et al, 2000
---	152-153insA	Goodman et al, unpublished, 2005
---	158delC	Goodman et al, 1998
E64D	192G>T	Goodman et al, unpublished, 2001
F71S	212T>C	Busquets et al, 2000a
---	219delC	Zschocke et al, 2000
Q76X	226C>T	Zschocke et al, 2000
R78G	232A>G	Spector & Scharer et al, unpublished, 2005
R88C	262C>T	Biery et al, 1996
E90K	268G>A	Busquets et al, 2000a

Intron 3:

Mutation	Base Change	Reference
---	IVS3+1G>A	Tang et al, 2000
---	IVS3-2A>C	Goodman et al, unpublished, 2005

Exon IV:

Mutation	Base Change	Reference
R94L	281G>T	Schwartz et al, 1998
G101R	301G>A	Anikster et al, 1996

Intron 4:

Mutation	Base Change	Reference
---	IVS4+5G>A	Goodman et al, 1998

Exon V:

Mutation	Base Change	Reference
Y113H	337T>C	Zschocke et al, 2000
C115Y	344G>A	Goodman et al, 1998
S119L	356C>T	Busquets et al, 2000a
A122V	365C>T	Goodman et al, 1998
R128G	382C>G	Goodman et al, 1998
R128X	382C>T	Busquets et al, 2000a
R128Q	383G>A	Zschocke et al, 2000
---	387-388delGC	Busquets et al, 2000a
R132Q	395G>A	Zschocke et al, 2000
V133M	397G>A	Zschocke et al, 2000
R138G	412A>G	Goodman et al, 1998
R138K	413G>A	Zschocke et al, 2000
S139L	416C>T	Goodman et al, 1998
---	433delT	Kalkanoglu et al, 2003
S146F	437C>T	Spector & Scharer et al, unpublished, 2005
S146Y	437C>A	Spector & Scharer et al, unpublished, 2005
V148I	442G>A	Schwartz et al, 1998
Y155H	463T>C	Busquets et al, 2000a
Y155C	464G>A	Goodman et al, unpublished, 2001
Q160R	479A>G	Goodman et al, unpublished, 2001
R161W	481C>T	Busquets et al, 2000c
R161Q	482G>A	Biery et al, 1996

Intron 5:

Mutation	Base Change	Reference
---	IVS5+1G>A	Zschocke et al, 2000

Exon VI:

Mutation	Base Change	Reference
C176R	526T>C	Zschocke et al, 2000
G178R	532G>A	Biery et al, 1996
G178E	533G>A	Goodman et al, unpublished, 2004
L179R	536T>G	Goodman et al, 1998
E181Q	541G>C	Zschocke et al, 2000
E181K	541G>A	Busquets et al, 2000a
G185R	553G>A	Goodman et al, unpublished, 2001
G185A	554G>C	Zschocke et al, 2000
M191T	572T>C	Schwartz et al, 1998
A195T	583G>A	Schwartz et al, 1998

Intron 6:

Mutation	Base Change	Reference
---	IVS6-1G>A	Zschocke et al, 2000

Exon VII:

Mutation	Base Change	Reference
T214M	641C>T	Goodman et al, unpublished, 2001
S216L	647C>T	Goodman et al, unpublished, 2003
P217L	650C>T	Zschocke et al, 2000
A219T	655G>A	Tang et al, 2000
A226T	676G>A	Goodman et al, unpublished, 2001
R227P	680G>C	Biery et al, 1996
F236L	706T>C	Goodman et al, 1998
L238P	713T>C	Lin et al, 2002
G244C	730G>T	Goodman et al, unpublished, 2001
P248L	743C>T	Zschocke et al, 2000
Q251X	751C>T	Spector & Scharer et al, unpublished, 2005
S255L	764C>T	Busquets et al, 2000a
R257W	769C>T	Schwartz et al, 1998
R257Q	770G>A	Schwartz et al, 1998
S259P	775T>C	Zschocke et al, 2000
M263V	787A>G	Muhlhausen et al, unpublished, 2003
M266V	796A>G	Goodman et al, 1998
---	802-803insG	Goodman et al, unpublished, 2002
P278S	832C>T	Schwartz et al, 1998
---	848delT	Busquets et al, 2000a
L283P	848T>C	Anikster et al, 1996

Intron 7:

Mutation	Base Change	Reference
---	IVS7+1G>A	Goodman et al, 1998

Exon VIII:

Mutation	Base Change	Reference
A293T	877G>A	Biery et al, 1996
R294W	880C>T	Schwartz et al, 1998
Y295H	883T>C	Goodman et al, 1995
A298V	893C>T	Spector & Scharer et al, unpublished, 2005
G303R	907G>A	Goodman et al, unpublished, 2001
A304T	910G>A	Busquets et al, 2000a
S305L	914C>T	Anikster et al, 1996
C308S	923G>C	Goodman et al, 1998
L309W	926T>G	Goodman et al, 1998
R313W	937C>T	Goodman et al, 1998
R313Q	938G>A	Zschocke et al, 2000
A316D	947C>A	Busquets et al, 2000a

Intron 8:

Mutation	Base Change	Reference

Exon IX:

Mutation	Base Change	Reference
Q333E	997C>G	Goodman et al, 1998
Q333X	997C>T	Goodman et al, unpublished, 2005
M339V	1015A>G	Ikeda et al, 1998
L340F	1018C>T	Kalkanoglu et al, 2003
L347F	1039C>T	Goodman et al, unpublished, 2002
A349T	1045G>A	Schwartz et al, 1998
G354R	1060G>C	Goodman et al, 1998
G354S	1060G>A	Schwartz et al, 1998
R355C	1063C>T	Goodman et al, 1998
R355H	1064G>A	Schwartz et al, 1998

Intron 9:

Mutation	Base Change	Reference

Exon X:

Mutation	Base Change	Reference
E365K	1093G>A	Biery et al, 1996
R372K	1115G>A	Busquets et al, 2000a
C375R	1123T>C	Goodman et al, 1998
C375Y	1124G>A	Goodman et al, unpublished, 2002
A382T	1144G>A	Goodman et al, 1998
R383C	1147C>T	Goodman et al, 1998
R383H	1148G>A	Goodman et al, 1998
A385V	1154C>T	Zschocke et al, 2000
R386X	1156C>T	Biery et al, 1996
R386G	1156C>G	Tang et al, 2000
R386Q	1157G>A	Goodman et al, 1998
R386P	1157G>C	Goodman et al, unpublished, 2005
---	1160-1173del	Schwartz et al, 1998
M388T	1163T>C	Muehlhausen et al, unpublished, 2004
G390R	1168G>C	Anikster et al, 1996
G390A	1169G>C	Goodman et al, 1998
G390V	1169G>T	Busquets et al, 2000b
---	1173delG	Anikster et al, 1996
N392D	1174A>G	Goodman et al, 1998
V400M	1198G>A	Biery et al, 1996
---	1198-1199insT	Goodman et al, unpublished, 2003
R402W	1204C>T	Biery et al, 1996
R402Q	1205G>A	Goodman et al, 1998
H403R	1208A>G	Goodman et al, 1998
---	1209-1210insG	Busquets et al, 2000c
M405V	1213A>G	Goodman et al, unpublished, 2004
N406K	1218C>G	Goodman et al, 1998
N406S	1217A>G	Goodman et al, unpublished, 2003
L407P	1220T>C	Goodman et al, 1998
Y413X	1239C>A	Zschocke et al, 2000
E414K	1240G>A	Biery et al, 1996

Intron 10:

Mutation	Base Change	Reference
---	IVS10+1G>C	Goodman et al, 1998
---	IVS10-2A>C	Tang et al, 2000
---	IVS10-2A>G	Goodman et al, unpublished, 2005

Exon XI:

Mutation	Base Change	Reference
T416I	1247C>T	Anikster et al, 1996
A421T	1261G>A	Goodman et al, 1998
A421V (Amish)	1262C>T	Biery et al, 1996
T429M	1286C>T	Schwartz et al, 1998
A433E	1298C>A	Schwartz et al, 1998
A433V	1298C>T	Busquets et al, 2000a
X439W	1317A>G	Busquets et al, 2000b

Full References

Anikster et al, 1996
Anikster Y, Shaag A, Joseph A, et al. Glutaric aciduria type I in the Arab and Jewish communities in Israel. Am J Hum Genet 59;1012-1018, 1996

Biery et al, 1996
Biery BJ, Stein DE, Morton DH, Goodman SI. Gene structure and mutations of glutaryl-CoA dehydrogenase: Impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet 59;1006-1011, 1996

Busquets et al, 2000a
Busquets C, Begona M, Christensen E, et al. Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res 48;315-322, 2000a

Busquets et al, 2000b
Busquets C, Soriano M, Tavares de Alameda I, et al. Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. Mol Genet Metab 71;535-537, 2000b

Busquets et al, 2000c
Busquets C, Coll MJ, Merinero B, et al. Prenatal molecular diagnosis of glutaric aciduria type 1 by direct mutation analysis. Prenat Diagn 20;761-764, 2000c

Goodman et al, 1995
Goodman SI, Kratz LE, DiGiulio KA, et al. Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. Hum Molec Genet 4;1493-1498, 1995

Goodman et al, 1998
Goodman SI, Stein DE, Schlesinger S, et al. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations. Hum Mutat 12;141-144, 1998

Greenberg et al, 1995
Greenberg CR, Reimer D, Singal R, et al. A G-to-T transversion at the +5 position of intron 1 in the glutaryl-CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. Hum Mol Genet 4;493-495, 1995

Ikeda et al, 1998
Ikeda H, Kimura T, Ikegami T, et al. Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I. Am J Med Genet 80;327-329, 1998

Kalkanoglu et al, 2003
Kalkanoglu HS, Durson A, Tokatly A, et al. Two novel mutations in glutaric aciduria type I. J Inherit Metab Dis 26 (suppl 2);193, 2003 (Abstr)

Lin et al, 2002
Lin SK, Hsu SG, Ho ES, et al. Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families. Prenat Diagn 22;725-729, 2002

Schwartz et al, 1998
Schwartz M, Christensen E, Superti-Furga A, Brandt NJ. The human glutaryl-CoA dehydrogenase gene: Report of intronic sequences and of thirteen novel mutations causing glutaric aciduria type I. Hum Genet 102;452-458, 1998

Tang et al, 2000
Tang NLS, Hui J, Law LK, et al. Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. Human Mutation. Mutation in Brief #375 (2000) Online

Zschocke et al, 2000
Zschocke J, Quak E, Guldberg P, Hoffmann GF. Mutation analysis in glutaric aciduria type I. J Med Genet 37;177-181, 2000

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