The Differential Diagnosis of Adult Osteogenesis Imperfecta - Osteogenesis Imperfecta - page 238

syndrome: unfolding of an N-anchor domain at the
N-terminal end of the type I collagen triple helix. J Biol Chem
2006;281(10):6463-70.
[7] Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell
HN, et al. Mutations near amino end of alpha1(I) collagen cause
combined osteogenesis imperfecta/Ehlers-Danlos syndrome
by interference with N-propeptide processing. J Biol Chem
2005;280(19):19259.
[8] Wenstrup RJ, Langland GT, Willing MC, D'Souza VN, Cole WG.
A splice-junction mutation in the region of COL5A1 that codes
for the carboxyl propeptide of pro-alpha-1(V) chains results in
the gravis form of the Ehlers-Danlos syndrome (type I). Hum
Molec Genet 1996;5:1733-6.
[9] Burrows NP, Nicholls AC, Yates JRW, Gatward G,
Sarathachandra P, Richards A, et al. The gene encoding collagen
alpha-1(V) (COL5A1) is linked to mixed Ehlers-Danlos syn-
drome type I/II. J Invest Derm 1996;106:1273-6.

abnormal type I procollagen by N-proteinase in vitro results in
the formation of copolymers of collagen and partially cleaved
pNcollagen that are near circular in cross-section. J Biol Chem
1992;267:9093-100.

[24] Giunta C, Chambaz C, Pedemonte M, Scapolan S, Steinmann B.

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA
and VIIB): the diagnostic value of collagen ibril ultrastructure.
(Letter). Am J Med Genet 2008;146A:1341-6.

[25] Sillence DO, Senn A, Danks DM. Genetic heterogeneity in

Osteogenesis Imperfecta. J Med Genet 1979;16:101-16.

[26] Marini JC. Behrman RE, Kliegman RM, Jenson HB, editors.

Nelson textbook of pediatrics (17th ed.). Philadelphia: Saunders;
2004. p. 2336-8.

[27] Riedner ED, Levin LS, Holliday MJ. Hearing patterns in domi-

nant osteogenesis imperfecta. Arch Otolaryng 1980;106:737-40.

[28] Shapiro JR, Pikus A, Weiss G, Rowe DW. Hearing and middle

ear function in osteogenesis imperfecta. JAMA 1982;247:2120-6.

[10] Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic

aspects of Ehlers-Danlos syndrome, classic type. Genet Med
2010;12(10):597-605.

[29] Paterson CR, Danks DM, McAllion S, Stellman JL. Osteogenesis

imperfecta after the menopause. N Engl J Med 1984;310:1694-6.

[30] Shapiro JR, Stover ML, Burn VE, McKinstry MB, Burshell AL,

Chipman SD, et al. An osteopenic nonfracture syndrome with fea-
tures of mild osteogenesis imperfecta associated with the substi-
tution of a cysteine for glycine at triple helix position 43 in the pro
alpha 1(I) chain of type I collagen. J Clin Invest 1992;89(2):567-73.

[11] Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M,

et al. Haploinsuficiency of TNXB is associated with hypermobility
type of Ehlers-Danlos syndrome. Am J Hum Genet 2003;73(1):214-7.

[12] Castori M, Camerota F, Celletti C, Grammatico P, Padua L.

Ehlers-Danlos syndrome hypermobility type and the excess of
affected females: possible mechanisms and perspectives. Am J
Med Genet 2010;152A:2406-8.

[31] Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL,

Prockop DJ. Mutation in a gene for type I procollagen (COL1A2)
in a woman with postmenopausal osteoporosis: evidence for
phenotypic and genotypic overlap with mild osteogenesis
imperfecta. Proc Natl Acad Sci USA 1991;88(12):5423-7.

[13] Larsson LG, Baum J, Mudholkar GS. Hypermobility: features

and differential incidence between the sexes. Arthritis Rheum
1987;30:1426-30. [32] Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH.

Reduced bone density and osteoporosis associated with a
polymorphic Sp1 binding site in the collagen type I alpha 1
gene. Nat Genet 1996;14(2):203-5.

[14] Narcisi P, Richards AJ, Ferguson SD, Pope FM. A family with

Ehlers-Danlos syndrome type III/articular hypermobility syn-
drome has a glycine 637-to-serine substitution in type III colla-
gen. Hum Molec Genet 1994;3:1617-20. [33] Uitterlinden AG, Burger H, Huang Q, Yue F, McGuigan FE,

Grant SF, et al. Relation of alleles of the collagen type I alpha1
gene to bone density and the risk of osteoporotic fractures in
postmenopausal women. N Engl J Med 1998;338(15):1016-21.

[15] Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ.

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997.
Am J Med Genet 1998;77:31-7.

[16] Dolan AL, Arden NK, Grahame R, Spector TD. Assessment of

bone in Ehlers Danlos syndrome by ultrasound and densitom-
etry. Ann Rheum Dis 1998;57:630-3.

[34] Mann V, Ralston SH. Meta-analysis of COL1A1 Sp1 polymor-

phism in relation to bone mineral density and osteoporotic frac-
ture. Bone 2003;32(6):711-7.

[17] Carbone L, Tylavsky FA, Bush AJ, Koo W,E, Orwoll E, Cheng

S. Bone density in Ehlers-Danlos syndrome. Osteoporos Int
2000;11(5):388-92.

[35] Keen RW, Woodford-Richens KL, Grant SF, Ralston SH,

Lanchbury JS, Spector TD. Association of polymorphism at the
type I collagen (COL1A1) locus with reduced bone mineral den-
sity, increased fracture risk, and increased collagen turnover.
Arthritis Rheum 1999;42(2):285-90.

[18] Wenstrup RJ, Florer JB, Brunskill EW, Bell SM, Chervoneva I,

Birk DE, et al. Collagen controls the initiation of collagen ibril
assembly. J Biol Chem 2004;279(51):53331-7. [36] Tran BN, Nguyen ND, Center JR, Eisman JA, Nguyen TV.

Enhancement of absolute fracture risk prognosis with
genetic marker: the collagen I alpha 1 gene. Calcif Tissue Int
2009;85(5):379-88. [Epub 2009 Sep 30].

[19] Weil D, Bernard M, Combates N, Wirtz MK, Hollister D,

Steinmann B, et al. Identiication of a mutation that causes exon
skipping during collagen pre-mRNA splicing in an Ehlers-
Danlos syndrome variant. J Biol Chem 1988;263:8561-4. [37] Jin H, Evangelou E, Ioannidis JP, Ralston SH. Polymorphisms in

the 5′ lank of COL1A1 gene and osteoporosis: meta-analysis of
published studies. Osteoporos Int 2011;22(3):911-21. [Epub 2010
Aug 27].

[20] Weil D, D'Alessio M, Ramirez F, de Wet W, Cole WG, Chan D,

et al. A base substitution in the exon of a collagen gene causes
alternative splicing and generates a structurally abnormal poly-
peptide in a patient with Ehlers-Danlos syndrome type VII.
EMBO J 1989;8:1705-10.

[38] Richards JB, Rivadeneira F, Inouye M, Pastinen TM, Soranzo

N, Wilson SG, et al. Bone mineral density, osteoporosis, and
osteoporotic fractures: a genome-wide association study. Lancet
2008;371:1505-12.

[21] Weil D, D'Alessio M, Ramirez F, Steinmann B, Wirtz MK,

Glanville RW, et al. Temperature-dependent expression of a col-
lagen splicing defect in the ibroblasts of a patient with Ehlers-
Danlos syndrome type VII. J Biol Chem 1989;264:16804-16809.

[39] Styrkarsdottir U, Cazier JB, Kong A, Rolfsson O, Larsen H,

Bjarnadottir E, et al. Multiple genetic loci for bone mineral den-
sity and fractures. N Engl J Med 2008;358:2355-65. [22] Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane

SM, et al. 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 col-
lagen. Am J Med Genet 1997;72:94-105.

[40] Timpson NJ, Tobias JH, Richards JB, Soranzo N, Duncan EL,

Sims AM, et al. Common variants in the region around Osterix
are associated with bone mineral density and growth in child-
hood. Hum Mol Genet 2009;18(8):1510-7.

[23] Watson RB, Wallis GA, Holmes DF, Viljoen D, Byers PH, Kadler

KE. Ehlers Danlos syndrome type VIIB: incomplete cleavage of

[41] Zhao J, Bradield JP, Li M, Zhang H, Mentch FD, Wang K, et al.

BMD-associated variation at the Osterix locus is correlated