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.