Note: The original file submitted is modified to provide links to the results.
Table 2. RNA splicing mutations in COL1A2.

Return to the start of COL1A2.

Mutation                  Phenotype      Reference(s)
Skipping and mis-         EDS VIIB       Byers et al. Am J Med Genet 72:94-105 1997
splicing of exon 6
A-2->G intron 5
IVS5-2A>G

Skipping and mis-         EDS VIIB       Byers et al. Am J Med Genet 72:94-105 1997
splicing of exon 6
G-1->A intron 5
IVS5-1G>A

Missplicing of exon 6     EDS VIIB       Chiodo et al. J Biol Chem 267:6361-6369 1992
G-1->C intron 5.
Cryptic site used at
+14/15 in exon 6
IVS5-1G>C

Skipping of exon 6        EDS VIIB       Weil et al. J Biol Chem 265:16007-16011 1990
G+1->A intron 6           EDS VIIB       Vasan et al. Am J Hum Genet 48:305-317 1991
IVS6+1G>A                 EDS VIIB       Nicholls et al. Hum Genet 87:193-198 1991
                          EDS VIIB       Watson et al. J Biol Chem 267:9093-9100 1992
                          EDS VIIB       Lehmann et al. Arch Dermatol Res 286:425-428 1994
                          EDS VIIB       Giunta et al. J Bone Joint Surg Am 81:225-238 1999

Skipping of exon 6        EDS VIIB       Byers et al. Am J Med Genet 72:94-105 1997
G+1->T intron 6           EDS VIIB       Byers et al. Am J Med Genet 72:94-105 1997
IVS6+1G>T                 EDS VIIB       Nicholls et al. J Med Genet 37:33e 2000

Skipping of exon 6        EDS VIIB       Weil et al. J Biol Chem 263:8561-8564 1988
T+2->C intron 6           EDS VIIB       Ho et al. Hum Mutat 3:358-364 1994
IVS6+2T>C                 EDS VIIB       Giunta et al. J Bone Joint Surg Am 81:225-238 1999

Skipping of exon 6        EDS VIIB       Weil et al. J Biol Chem 264:16804-16809 1989
ATG->ATA 3' end of        EDS VIIB       Byers et al. Am J Med Genet 72:94-105 1997
exon 6
c.279G>A

Skipping of exon 9        OI/            Nicholls et al. Hum Genet 88:627-633 1992
Deletion of 11bp in       osteoporosis?
intron 9, +3->+13
IVS9+3-+13delAAGTATTTACT

Skipping of exon 9        Joint laxity,  Feshchenko et al. Hum Mutat 12:138 1998 Online
G+5->A intron 9           hyperextensible
IVS9+5G>A                 skin, blue
                          sclerae

Skipping of exon 11       Atypical OI    Kuivaniemi et al. J Biol Chem 263:11407-11413 1988
Deletion of 19bp across
intron 10/exon 11

Skipping of exon 12       OI IV          Chipman et al. J Bone Miner Res 7:793-805 1992
T+2->G intron 12
IVS12+2T>G

"Skipping" of exon 13     OI             Ward et al. Hum Mutat Mutation in Brief #414 2001 Online
IVS12-3T>A

Skipping of exon 13       OI I           Zhuang et al. Hum Genet 91:210-216 1993
Deletion of 19bp in
intron 13, +4->+22
IVS13+4-+22delAGTATTGACTACTTCATTG

Skipping of exon 16       OI IV          Filie et al. Hum Mutat 2:380-388 1993
G+1->A intron16
IVS16+1G>A

"Skipping" of exon 16     OI IV          Ward et al. Hum Mutat Mutation in Brief #414 2001 Online
IVS16+1G>T

Skipping of exon 16       OI III/IV      Zolezzi et al. Hum Mutat 6:268-271 1995
T+2->C intron 16
IVS16+2T>C

Skipping of exon 20       OI I           Mottes et al. Hum Genet 93:681-687 1994
G-1->C intron 19
IVS19-1G>C

Skipping of exon 21       OI I           Superti-Furga et al. Connect Tissue Res 29:31-40 1993
Deletion of 39bp in
intron 21, +2->+40
IVS21+2-+40del

Skipping of exon 21       OI I(?) or     Nicholls et al. Hum Mutat 7:219-227 1996
G+5->A intron 21          dentinogenesis
IVS21+5G>A                imperfecta(?)

Missplicing of exon24     EDS            Schwarze et al. Am J Hum Genet 74:917-930 2004
in one allele &           (recessive)
misspsplicing of intron
1 in the other allele
c.1404+1G>A + c.70+717A>G

Missplicing of exon24     EDS            Schwarze et al. Am J Hum Genet 74:917-930 2004
in one allele &           (recessive)
misspsplicing of intron
11 in the other allele
c.1404+1G>C + c.540+5G>A

Skipping of exon 26       OI IV          Wenstrup et al. Annal NY Acad Sci 580:546-548 1990
not defined

Skipping of exon 26       OI IV          Zolezzi et al. Am J Med Genet 71:366-370 1997
A+3->G intron 26
IVS26+3A>G

Skipping of exon 28       OI II          Tromp & Prockop Proc Natl Acad Sci USA 85:5254-5258 1988
A-2->G intron 27
IVS27-2A>G

Missplicing of intron 32  OI III/IV      Kuslich et al. Am J Hum Genet 67S2:196 2000 abstract 1052
G+1->A intron 32.
Cryptic AT/AC acceptor
used. Inclusion of last
6 nt of intron 32
IVS32+1G>A

Missplicing of intron 33  OI IV          Wenstrup et al. Am J Med Genet 45:228-232 1993
G+4->A intron 33.
Alternative site at
+19. Inclusion of 6aa
IVS33+4G>A

Skipping of exon 33       OI II          Ganguly et al. J Biol Chem 266:12035-12040 1991
G+5->A intron 33
IVS33+5G>A

"Skipping" of exon 40     OI II          Ward et al. Hum Mutat Mutation in Brief #414 2001 Online
IVS40+5G>A

Missplicing of intron 46  EDS/OI         Nicholls et al. J Med Genet 38:132-135 2001
IVS46+2T>C
Cryptic donor site in
exon 46 used causing
17 base deletion and a
frame shift. Recessive.