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  • Known Mutations of the Glutaryl-CoA Dehydrogenase Gene
 

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.

Mutations of Glutaryl-CoA Dehydrogenase:

(Please scroll down for all data)

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--- 152-153insA Goodman et al, unpublished, 2005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T Goodman et al, unpublished, 2001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G Spector & Scharer et al, unpublished, 2005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C Goodman et al, unpublished, 2005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T Spector & Scharer et al, unpublished, 2005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A Spector & Scharer et al, unpublished, 2005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A Goodman et al, unpublished, 2001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G Goodman et al, unpublished, 2001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A Goodman et al, unpublished, 2004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