+-----------+---------+----------+---+-----+-----------+-------------+
| ## SUPP   |         |          |   |     |           |             |
| LEMENTARY |         |          |   |     |           |             |
|  TABLE 4. |         |          |   |     |           |             |
|  Splicing |         |          |   |     |           |             |
|  defects  |         |          |   |     |           |             |
| in COL1A2 |         |          |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| **Nuc     | **IVS   | # **Tra  | * |     | **Ref     | **Un        |
| leotide** | loc     | nscript  | * |     | erences** | published** |
|           | ation** | Change** | P |     |           |             |
| **Change  |         |          | h |     |           | **(personal |
| ^a^**     |         |          | e |     |           | commun      |
|           |         |          | n |     |           | ications)** |
|           |         |          | o |     |           |             |
|           |         |          | t |     |           |             |
|           |         |          | y |     |           |             |
|           |         |          | p |     |           |             |
|           |         |          | e |     |           |             |
|           |         |          | ^ |     |           |             |
|           |         |          | b |     |           |             |
|           |         |          | ^ |     |           |             |
|           |         |          | * |     |           |             |
|           |         |          | * |     |           |             |
|           |         |          |   |     |           |             |
|           |         |          | * |     |           |             |
|           |         |          | * |     |           |             |
|           |         |          | L |     |           |             |
|           |         |          | e |     |           |             |
|           |         |          | t |     |           |             |
|           |         |          | h |     |           |             |
|           |         |          | a |     |           |             |
|           |         |          | l |     |           |             |
|           |         |          | N |     |           |             |
|           |         |          | o |     |           |             |
|           |         |          | n |     |           |             |
|           |         |          | - |     |           |             |
|           |         |          | L |     |           |             |
|           |         |          | e |     |           |             |
|           |         |          | t |     |           |             |
|           |         |          | h |     |           |             |
|           |         |          | a |     |           |             |
|           |         |          | l |     |           |             |
|           |         |          | * |     |           |             |
|           |         |          | * |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | multiple |   | E   | (Byers,   |             |
| .8927A\>G | 5-2A\>G |          |   | DSV | et al.,   |             |
|           |         |          |   | IIB | 1997)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   |           | Marini,     |
| .8927A\>G | 5-2A\>G | 1st 15bp |   | DSV |           | Cabral and  |
|           |         | exon 6   |   | IIB |           | Pals        |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IV      | multiple |   | E   | (Byers,   |             |
| .8928G\>A | S5-1\>A |          |   | DSV | et al.,   |             |
|           |         |          |   | IIB | 1997)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | cryptic  |   | E   | (Chiodo,  |             |
| .8928G\>C | 5-1G\>C | site +14 |   | DSV | et al.,   |             |
|           |         | e6       |   | IIB | 1992)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | 8       | Skips    |   | E   | (Weil, et |             |
| .8982G\>A | 982G\>A | exon 6   |   | DSV | al.,      |             |
|           |         |          |   | IIB | 1989)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | 8       | Skips    |   | E   | (Byers,   |             |
| .8982G\>A | 982G\>A | exon 6   |   | DSV | et al.,   |             |
|           |         |          |   | IIB | 1997)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (Weil, et |             |
| .8983G\>A | 6+1G\>A | exon 6   |   | DSV | al.,      |             |
|           |         |          |   | IIB | 1990)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (Vasan,   |             |
| .8983G\>A | 6+1G\>A | exon 6   |   | DSV | et al.,   |             |
|           |         |          |   | IIB | 1991)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (         |             |
| .8983G\>A | 6+1G\>A | exon 6   |   | DSV | Nicholls, |             |
|           |         |          |   | IIB | et al.,   |             |
|           |         |          |   |     | 1991)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (Watson,  |             |
| .8983G\>A | 6+1G\>A | exon 6   |   | DSV | et al.,   |             |
|           |         |          |   | IIB | 1992)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (Lehmann, |             |
| .8983G\>A | 6+1G\>A | exon 6   |   | DSV | et al.,   |             |
|           |         |          |   | IIB | 1994)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (Giunta,  |             |
| .8983G\>A | 6+1G\>A | exon 6   |   | DSV | et al.,   |             |
|           |         |          |   | IIB | 1999)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (Byers,   |             |
| .8983G\>T | 6+1G\>T | exon 6   |   | DSV | et al.,   |             |
|           |         |          |   | IIB | 1997)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (Byers,   |             |
| .8983G\>T | 6+1G\>T | exon 6   |   | DSV | et al.,   |             |
|           |         |          |   | IIB | 1997)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (         |             |
| .8983G\>T | 6+1G\>T | exon 6   |   | DSV | Nicholls, |             |
|           |         |          |   | IIB | et al.,   |             |
|           |         |          |   |     | 2000)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (Weil, et |             |
| .8984T\>C | 6+2T\>C | exon 6   |   | DSV | al.,      |             |
|           |         |          |   | IIB | 1988)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (Ho, et   |             |
| .8984T\>C | 6+2T\>C | exon 6   |   | DSV | al.,      |             |
|           |         |          |   | IIB | 1994)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g         | IVS     | Skips    |   | E   | (Giunta,  |             |
| .8984T\>C | 6+2T\>C | exon 6   |   | DSV | et al.,   |             |
|           |         |          |   | IIB | 1999)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS     | Skips    |   | IV  |           | Byers       |
| 12256G\>T | 9+1G\>T | exon 9   |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.12258_1 | I       | Skips    |   | OI/ | (         |             |
| 2268del11 | VS9+3\^ | exon 9   |   | EDS | Nicholls, |             |
|           | 13del11 |          |   |     | et al.,   |             |
|           |         |          |   |     | 1992)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IV      | Skips    |   | IV  |           | Byers       |
| 12259_122 | S9+4\^7 | exon 9   |   |     |           |             |
| 62delAGTA | delAGTA |          |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS     | Skips    |   | OI/ | (Fe       |             |
| 12260G\>A | 9+5G\>A | exon 9   |   | EDS | shchenko, |             |
|           |         |          |   |     | et al.,   |             |
|           |         |          |   |     | 1998)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS     | Skips    |   | OI/ |           | Byers       |
| 12256G\>A | 9+5G\>A | exon 9   |   | EDS |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS     | more     |   | IV  |           | Byers       |
| 12260G\>A | 9+5G\>A | complex? |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS     |          |   | OI/ |           | Hyland and  |
| 12561G\>C | 9-1G\>C |          |   | EDS |           | Prockop     |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.13031_1 | 13      | Skips    |   | OI/ | (Ku       |             |
| 3050del20 | 031_130 | exon 11  |   | EDS | ivaniemi, |             |
|           | 50del20 |          |   |     | et al.,   |             |
|           |         |          |   |     | 1988)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    | Skips    |   | IV  | (Chipman, |             |
| 13668T\>G | 2+2T\>G | exon 12  |   |     | et al.,   |             |
|           |         |          |   |     | 1992)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.13667_1 | IV      | Skips    |   | IV  |           | Byers       |
| 3685del19 | S12+1\^ | exon 12  |   |     |           |             |
|           | 19del19 |          |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    |          |   | IV  | (Ward, et |             |
| 15214T\>A | 2-3T\>A |          |   |     | al.,      |             |
|           |         |          |   |     | 2001)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.15265_1 | IV      | Skips    |   | I   | (Zhuang,  |             |
| 5283del19 | S13+4\^ | exon 13  |   |     | et al.,   |             |
|           | 22del19 |          |   |     | 1993)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    | Skips    |   | I   |           | Korkko and  |
| 15607G\>A | 4+1G\>A | exon 14  |   |     |           | Prockop     |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    | Skips    |   | IV  |           | Byers       |
| 15608T\>C | 4+2T\>C | exon 14  |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    | Skips    |   | IV  |           | Byers       |
| 15608T\>A | 4+2T\>A | exon 14  |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    | Skips    |   | IV  |           | Byers       |
| 16138A\>G | 5-2A\>G | exon 16  |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    | Skips    |   | IV  | (Filie,   |             |
| 16194G\>A | 6+1G\>A | exon 16  |   |     | et al.,   |             |
|           |         |          |   |     | 1993)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    | Skips    |   | IV  | (Ward, et |             |
| 16194G\>T | 6+1G\>T | exon 16  |   |     | al.,      |             |
|           |         |          |   |     | 2001)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    | Skips    |   | III | (Zolezzi, |             |
| 16195T\>C | 6+2T\>C | exon 16  |   | /IV | et al.,   |             |
|           |         |          |   |     | 1995)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    | Skips    |   | I   |           | Korkko and  |
| 16195T\>A | 6+2T\>A | exon 16  |   |     |           | Prockop     |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS1    | Skips    |   | I   | (Mottes,  |             |
| 17611G\>C | 9-1G\>C | exon 20  |   |     | et al.,   |             |
|           |         |          |   |     | 1994)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.17900_1 | IV      | Skips    |   | I   | (Super    |             |
| 7938del39 | S21+2\^ | exon 21  |   |     | ti-Furga, |             |
|           | 40del39 |          |   |     | et al.,   |             |
|           |         |          |   |     | 1993)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS2    | Skips    |   | I   | (         |             |
| 17903G\>A | 1+5G\>A | exon 21  |   |     | Nicholls, |             |
|           |         |          |   |     | et al.,   |             |
|           |         |          |   |     | 1996)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS2    | Skips    |   | IV  |           | Byers       |
| 17903G\>C | 1+5G\>C | exon 21  |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS2    | Skips    |   | IV  |           | Byers       |
| 17903G\>A | 1+5G\>A | exon 21  |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| ND        | ND      | Skips    |   | IV  | (         |             |
|           |         | exon 26  |   |     | Wenstrup, |             |
|           |         |          |   |     | et al.,   |             |
|           |         |          |   |     | 1990)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS2    | Skips    |   | III |           | Lund        |
| 20451G\>C | 5-1G\>C | exon 26  |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS2    | Skips    |   | IV  | (Zolezzi, |             |
| 20508A\>G | 6+3A\>G | exon 26  |   |     | et al.,   |             |
|           |         |          |   |     | 1997)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS2    | Skips    | I |     | (Tromp    |             |
| 21261A\>G | 7-2A\>G | exon 28  | I |     | and       |             |
|           |         |          |   |     | Prockop,  |             |
|           |         |          |   |     | 1988)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| ND        | ND      | Skips    | I |     |           | Nuytinck    |
|           |         | exon 30  | I |     |           | and De      |
|           |         |          |   |     |           | Paepe       |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS3    | Skips    | I |     |           | Byers       |
| 22641G\>A | 0+1G\>A | exon 30  | I |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS3    | del32,   |   | III | (Kuslich  |             |
| 25198G\>A | 2+1G\>A | ins last |   | /IV | and       |             |
|           |         | 6nt IVS  |   |     | Byers,    |             |
|           |         | 32       |   |     | 2000)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS3    | Skips    | I |     |           | Byers       |
| 25198G\>A | 2+1G\>A | exon 32  | I |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS3    | first 18 |   | IV  | (         |             |
| 25924A\>G | 3+4A\>G | nt ins   |   |     | Wenstrup, |             |
|           |         | IVS33    |   |     | et al.,   |             |
|           |         |          |   |     | 1993)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS3    | Skips    | I |     | (Ganguly, |             |
| 25925G\>A | 3+5G\>A | exon 33  | I |     | et al.,   |             |
|           |         |          |   |     | 1991)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| ND        | ND      | Skips    | I |     |           | Cohn, King  |
|           |         | exon 34  | I |     |           | and Krakow  |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.\[276   | IVS3    | Skips    |   | III |           | De Paepe    |
| 47T\>A;27 | 5+6T\>A | exon 35  |   |     |           |             |
| 649A\>C\] | ;+8A\>C |          |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS3    | Skips    |   | III |           | Korkko and  |
| 27801T\>C | 6+2T\>C | exon 36  |   |     |           | Prockop     |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS3    | Skips    | I |     |           | Byers       |
| 28004G\>T | 7+1G\>T | exon 37  | I |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS3    | del38 +  |   | IV  |           | Byers       |
| 28363A\>G | 7-2A\>G | cryptic  |   |     |           |             |
|           |         | site?    |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS4    | del last | I |     | (Ward, et |             |
| 30439G\>A | 0+5G\>A | 66nt e40 | I |     | al.,      |             |
|           |         |          |   |     | 2001)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS4    | Skips    | I |     |           | Byers       |
| 32424T\>G | 1-3T\>G | exon 42  | I |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS4    | del43,   |   | IV  |           | Byers       |
| 32974G\>A | 3+1G\>A | ins IVS  |   |     |           |             |
|           |         | 43       |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS4    | Skips    |   | IV  |           | De Paepe    |
| 32974G\>A | 3+1G\>A | exon 43  |   |     |           |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS4    | Skips    |   | IV  |           | Cohn, King  |
| 32974G\>A | 3+1G\>A | exon 43  |   |     |           | and Krakow  |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS4    |          |   | IV  | (         |             |
| 32974G\>A | 3+1G\>A |          |   |     | Hartikka, |             |
|           |         |          |   |     | et al.,   |             |
|           |         |          |   |     | 2004)     |             |
+-----------+---------+----------+---+-----+-----------+-------------+
| ND        | ND      | Skips    | I |     |           | Cohn, King  |
|           |         | exon 47  | I |     |           | and Krakow  |
+-----------+---------+----------+---+-----+-----------+-------------+
| g.        | IVS4    | Skips    | I |     |           | Korkko and  |
| 34370G\>C | 7+5G\>C | exon 47  | I |     |           | Prockop     |
+-----------+---------+----------+---+-----+-----------+-------------+

^a^The Nucleotide changes: described at the genomic level. Numbered from
the first base of the transcript.

^b^Phenotype: is based on the callsification proposed by Sillence
(Sillence, et al., 1979).

ND=mutation detected only at mRNA level.

**References**

Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally
MT, Ludman M, Matalon R, Pauker S and others. 1997. Ehlers-Danlos
syndrome type VIIA and VIIB result from splice-junction mutations or
genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of
type I collagen. Am J Med Genet 72:94-105.

Chiodo AA, Hockey A, Cole WG. 1992. A base substitution at the splice
acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice
site within exon 6 and generates abnormal type I procollagen in a
patient with Ehlers-Danlos syndrome type VII. J Biol Chem 267:6361-9.

Chipman SD, Shapiro JR, McKinstry MB, Stover ML, Branson P, Rowe DW.
1992. Expression of mutant α (I)-procollagen in osteoblast and
fibroblast cultures from a proband with osteogenesis imperfecta type IV.
J Bone Miner Res 7(7):793-805.

Feshchenko S, Brinckmann J, Lehmann HW, Koch HG, Muller PK, Kugler S.
1998. Identification of a new heterozygous point mutation in the COL1A2
gene leading to skipping of exon 9 in a patient with joint laxity,
hyperextensibility of skin and blue sclerae. Mutations in brief no. 166.
Online. Hum Mutat 12:138.

Filie JD, Orrison BM, Wang Q, Lewis MB, Marini JC. 1993. A de novo
G+1\--\>A mutation at the α2(I) exon 16 splice donor site causes
skipping of exon 16 in the cDNA of one allele of an OI type IV proband.
Hum Mutat 2:380-8.

Ganguly A, Baldwin CT, Strobel D, Conway D, Horton W, Prockop DJ. 1991.
Heterozygous mutation in the G+5 position of intron 33 of the pro-α2(I)
gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis
imperfecta. Use of carbodiimide methods that decrease the extent of DNA
sequencing necessary to define an unusual mutation. J Biol Chem
266:12035-40.

Giunta C, Superti-Furga A, Spranger S, Cole WG, Steinmann B. 1999.
Ehlers-Danlos syndrome type VII: clinical features and molecular
defects. J Bone Joint Surg Am 81:225-38.

Hartikka H, Kuurila K, Korkko J, Kaitila I, Grenman R, Pynnonen S,
Hyland JC, Ala-Kokko L. 2004. Lack of correlation between the type of
COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta
patients. Hum Mutat 24:147-54.

Ho KK, Kong RY, Kuffner T, Hsu LH, Ma L, Cheah KS. 1994. Further
evidence that the failure to cleave the aminopropeptide of type I
procollagen is the cause of Ehlers-Danlos syndrome type VII. Hum Mutat
3:358-64.

Kuivaniemi H, Sabol C, Tromp G, Sippola-Thiele M, Prockop DJ. 1988. A
19-base pair deletion in the pro-α2(I) gene of type I procollagen that
causes in-frame RNA splicing from exon 10 to exon 12 in a proband with
atypical osteogenesis imperfecta and in his asymptomatic mother. J Biol
Chem 263:11407-13.

Kuslich CD, Byers PH. An IVS32+1G\>A mutation in a type I collagen gene,
COL1A2, results in use of a rare AT/AC splice system and may ameliorate
the osteogenesis imperfecta phenotype caused by exon-skipping; 2000;
ASHG Conference, Philadelphia, Pennsylvania. p 196.

Lehmann HW, Mundlos S, Winterpacht A, Brenner RE, Zabel B, Muller PK.
1994. Ehlers-Danlos syndrome type VII: phenotype and genotype. Arch
Dermatol Res 286:425-8.

Mottes M, Sangalli A, Valli M, Forlino A, Gomez-Lira M, Antoniazzi F,
Constantinou-Deltas CD, Cetta G, Pignatti PF. 1994. A base substitution
at IVS-19 3\'-end splice junction causes exon 20 skipping in pro α2(I)
collagen mRNA and produces mild osteogenesis imperfecta. Hum Genet
93:681-7.

Nicholls AC, Oliver J, McCarron S, Winter GB, Pope FM. 1996. Splice site
mutation causing deletion of exon 21 sequences from the pro α2(I) chain
of type I collagen in a patient with severe dentinogenesis imperfecta
but very mild osteogenesis imperfecta. Hum Mutat 7:219-27.

Nicholls AC, Oliver J, Renouf DV, Heath DA, Pope FM. 1992. The molecular
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