Table 2 RNA splicing mutations in COL1A1.



Return to the start of COL1A1.



Mutation                  Phenotype      Reference(s)

"Skipping" of exon 3      OI I           Ries-Levavi et al. Hum Mutat Mutation in Brief #701 2004 Online

IVS3+1G>C

c.333G>T;.c333+1G>C



"Skipping" of exon 6      OI I           Korkko et al. Am J Hum Genet 62:98-110 1998

A-2->G intron 5

IVS5-2A>G



Skipping and mis-         EDS VIIA       Byers et al. Am J Med Genet 72:94-105 1997

splicing of exon 6        EDS VIIA       Nicholls et al. J Med Genet 37:33e 2000 Online

G-1->A intron 5

IVS5-1G>A



Skipping of exon 6        EDS VIIA       Weil et al. EMBO J 8:1705-1710 1989

G->A 3' end of exon 6     EDS VIIA       D'Alessio et al. Am J Hum Genet 49:400-406 1991

nt622

c.503G>A



Skipping of exon 8        OI III/IV      Bateman et al. Biochem J 302: 729-735 1994



"Skipping" of exon 8      OI III/IV      Schwarze et al. Am J Hum Genet 65:336-344 1999

G+1->C intron 8

resulting in several

splice products

IVS8+1G>C



Skipping of exon 10       OI IV          Pepin et al. Prenat Diagn 17:559-570 1997

G-1->T intron 9

IVS9-1G>T



"Skipping" of exon 11     OI III         Ward et al. Hum Mutat Mutation in Brief #414 2001 Online

IVS11+3-+6delGAGT



"Skipping" of exon 12     OI I           Korkko et al. Am J Hum Genet 62:98-110 1998

G+1->A intron 12

IVS12+1G>A



Mis-splicing of intron 13 OI I           Schafer et al. Hum Genet 114:404 2004

IVS13-10T>A

c.904-10T>A



Skipping of exon 14       OI II          Bonadio et al. J Biol Chem 265:2262-2268 1990

G+5->A intron 14

IVS14+5G>A



"Skipping" of exon 16     OI I           Ward et al. Hum Mutat Mutation in Brief #414 2001 Online

IVS15-33--44delCTGCCATCTCTT



"Skipping" of exon 17     OI I           Willing et al. Am J Med Genet 45:223-227 1993

A-2->G intron 16

IVS16-2A>G



"Skipping" of exon 17     OI I           Pepin et al. Prenat Diagn 17:559-570 1997

G+1->C intron 17

IVS17+1G>C



Use of cryptic splice     OI I           Willing et al. Am J Hum Genet 55:638-647 1994

site at G-8 exon 18       OI I           Willing et al. Am J Hum Genet 55:638-647 1994

(nt 1312) due to

G+1->A intron 18

causing frameshift

and termination 32 aa

downstream

IVS18+1G>A



"Skipping" of exon 19     OI I           Korkko et al. Am J Hum Genet 62:98-110 1998

G-1->A intron 18

IVS18-1G>A



"Skipping" of exon 19     OI I           Benusiene and Kucinskas J Appl Genet 44:95-102 2003

IVS19+1G>A



Skipping of exon 19       OI IV          Cabral and Marini Am J Hum Genet 74:752-760 2004

IVS19+1G>C

c.1299+1G>C



"Skipping" of exon 20     OI IA          Benusiene and Kucinskas J Appl Genet 44:95-102 2003

IVS20-2A>G



"Skipping" of exon 20     OI I           Ward et al. Hum Mutat Mutation in Brief #414 2001 Online

IVS20+2T>C



"Skipping" of exon 21     OI I           Korkko et al. Am J Hum Genet 62:98-110 1998

G-12->A intron 20

IVS19-12G>A



Skipping of exon 21       OI II          Byers et al. V Int Conf on OI 1993

not defined



"Skipping" of exon 22     OI IB          Benusiene and Kucinskas J Appl Genet 44:95-102 2003

IVS22-1G>T



"Skipping" of exon 22     OI I           Korkko et al. Am J Hum Genet 62:98-110 1998

A+3->G intron 22

IVS22+3A>G



"Skipping" of exon 26     OI I           Korkko et al. Am J Hum Genet 62:98-110 1998

G-1->A intron 25

IVS25-1G>A



Inclusion of intron 26    OI I           Stover et al. J Clin Invest 92:1994-2002 1993

G+1->A intron 26          OI I           Korkko et al. Hum Mutat 9:148-156 1997

IVS26+1G>A



Inclusion(?) of intron 26 OI I           Korkko et al. Hum Mutat 9:148-156 1997

G+1->T intron 26

IVS26+1G>T



Skipping of exon 27       OI II          Byers. Trends Genet 6:293-300 1990

A-2->C intron 26          OI II          Pepin et al. Prenat Diagn 17:559-570 1997

IVS26-2A>C



"Skipping" of exon 28     OI IV          Ward et al. Hum Mutat Mutation in Brief #414 2001 Online

IVS27-1G>C



Skipping of exon 30       OI III         Wallis et al. Am J Hum Genet 45S:A228 1989

not defined



Skipping of exon 41       OI III         Horwitz et al. Nat Med 5:309-313 1999

A+4->C intron 41          OI III         Cabral et al. J Biol Chem 277:4215-4222 2002

IVS41+4A>C



Skipping of exon 43       OI II          Byers. Trends Genet 6:293-300 1990

not defined



Skipping of exon 44       OI II          Byers. Trends Genet 6:293-300 1990

C-3->? intron 43

IVS43-3C>?



Skipping of exon 47       OI II          Wallis et al. IV Int Conf on OI 55 1990

G+1->A intron 47

IVS47+1G>A



Skipping of exon 48       OI III/IV      Pepin et al. Prenat Diagn 17:559-570 1997

C-3->G intron 47

IVS47-3C>G



Inclusion of intron 48    OI I           Willing et al. Am J Hum Genet 55:638-647 1994

G+1->A intron 48

IVS48+1G>A