Osteogenesis Imperfecta Genotypes and Genotype-Phenotype Relationships - Osteogenesis Imperfecta - page 101

bioinformatics tool to predict splicing signals. Nucleic Acids Res
2009;37:e67.

exons in the collagen COL1A1 gene. Exon 8 skipping and altered
deinition of exon 7 generates truncated proα1(I) chains with a
non-collagenous insertion destabilizing the triple helix. Biochem
J 1994;302:729-35.

[52] Körkkö J, Ala-Kokko L, De Paepe A, Nuytink L, Earley J, Prockop

DJ. Analysis of the COL1A1 and COL1A2 genes by PCR amplii-
cation and scanning by conformation-sensitive gel electrophoresis
identiies only COL1A1 mutations in 15 pateints with osteogene-
sis imperfecta type I: identiication of common sequences of null-
allele mutations. Am J Hum Genet 1998;62:98-110.

[60] Lee K-S, Song H-R, Cho T-J, et al. Mutational spectrum of type I

collagen genes in Korean patients with osteogenesis imperfecta.
Hum Mutat 2006;27:599.

[61] van Dijk FS, Byers PH, Dalgleish R, et al. EMQN best practice

guidelines for the laboratory diagnosis of osteogenesis imper-
fecta. Eur J Hum Genet 2012;20:11-19.

[53] Zhang ZL, Zhang H, Ke YH, et al. The identiication of novel

mutations in COL1A1 , COL1A2 , and LEPRE1 genes in Chinese
patients with osteogenesis imperfecta. J Bone Miner Metab 2012;
30:69-77.

[62] Genovese C, Brufsky A, Shapiro J, Rowe D. Detection of muta-

tions in human type I collagen mRNA in osteogenesis imper-
fecta by indirect RNase protection. J Biol Chem 1989;264:9632-7. [54] Hull J, Campino S, Rowlands K, et al. Identiication of com-

mon genetic variation that modulates alternative splicing. PLoS
Genet 2007;3:e99.

[63] Daley E, Streeten EA, Sorkin JD, et al. Variable bone fragil-

ity associated with an Amish COL1A2 variant and a knock-in
mouse model. J Bone Miner Res 2010;25:247-61. [55] Grant SFA, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH.

Reduced bone density and osteoporosis associated with a poly-
morphic Sp1 binding site in the collagen type I α1 gene. Nat
Genet 1996;14:203-5.

[64] Raghunath M, Mackay K, Dalgleish R, Steinmann B. Genetic

counselling on brittle grounds: recurring osteogenesis imper-
fecta due to parental mosaicism for a dominant mutation. Eur J
Pediatr 1995;154:123-9. [56] Garcia-Giralt N, Nogues X, Enjuanes A, et al. Two new single-

nucleotide polymorphisms in the COL1A1 upstream regulatory
region and their relationship to bone mineral density. J Bone
Miner Res 2002;17:384-93.

[65] Lund AM, Åström E, Söderhäll S, Schwartz M, Skovby F.

Osteogenesis imperfecta: mosaicism and reinement of the geno-
type-phenotype map in OI type III. Hum Mutat 1999;13:503.

[57] Wang GS, Cooper TA. Splicing in disease: disruption of the

splicing code and the decoding machinery. Nat Rev Genet 2007;
8:749-61.

[66] Cohen-Solal L, Zolezzi F, Pignatti PF, Mottes M. Intrafamilial

variable expressivity of osteogenesis imperfecta due to mosa-
icism for a lethal G382R substitution in the COL1A1 gene. Mol
Cell Probes 1996;10:219-25. [58] Schwarze U, Starman BJ, Byers PH. Redeinition of exon 7 in the

COL1A1 gene of type I collagen by an intron 8 splice-donor-site
mutation in a form of osteogenesis imperfecta: inluence of intron
splice order on outcome of splice-site mutation. Am J Hum Genet
1999;65:336-44.

[67] Brooks P, Marcaillou C, Vanpeene M, et al. Robust physical

methods that enrich genomic regions identical by descent for
linkage studies: conirmation of a locus for osteogenesis imper-
fecta. BMC Genetics 2009;10:16.

[59] Bateman JF, Chan D, Moeller I, Hannagan M, Cole WGA. 5′ splice

site mutation affecting the pre-mRNA splicing of two upstream