09i |
c.696+2T > G |
Substitution |
Splice site |
OI I |
(Marini
et al., 2007Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom
S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, et al. (2007)
Consortium for osteogenesis imperfecta mutations in the helical domain of type I
collagen: regions rich in lethal mutations align with collagen binding sites for
integrins and proteoglycans. Hum Mutat 28:209–221.) |
09i |
c.697-2A > G |
Substitution |
Splice site |
2 OI I; 1 OI IV |
(Hartikka et al., 2004Hartikka H, Kuurila K, Körkkö J, Kaitila I, Grénman R, Pynnönen S,
Hyland JC and Ala-Kokko L (2004) Lack of correlation between the type of COL1A1
or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum
Mutat 24:147–154.; Marini et al.,
2007Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom
S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, et al. (2007)
Consortium for osteogenesis imperfecta mutations in the helical domain of type I
collagen: regions rich in lethal mutations align with collagen binding sites for
integrins and proteoglycans. Hum Mutat 28:209–221.) |
09i |
c.697-2A > T |
Substitution |
Splice site |
OI I |
(Marini
et al., 2007Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom
S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, et al. (2007)
Consortium for osteogenesis imperfecta mutations in the helical domain of type I
collagen: regions rich in lethal mutations align with collagen binding sites for
integrins and proteoglycans. Hum Mutat 28:209–221.) |
09i |
c.697-2delA |
Deletion |
Splice site |
OI I |
(Lee
et al., 2006Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S,
Jung SC and Koo SK (2006) Mutational spectrum of type I collagen genes in Korean
patients with osteogenesis imperfecta. Hum Mutat 27:599.) |
09i |
c.697_2_697-1del |
Deletion |
Splice site |
OI IV; OI I |
(Marini
et al., 2007Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom
S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, et al. (2007)
Consortium for osteogenesis imperfecta mutations in the helical domain of type I
collagen: regions rich in lethal mutations align with collagen binding sites for
integrins and proteoglycans. Hum Mutat 28:209–221.; Swinnen et al.,
2009Swinnen FK, De Leenheer EM, Coucke PJ, Cremers CW and Dhooge IJ
(2009) Audiometric, surgical, and genetic findings in 15 ears of patients with
osteogenesis imperfecta. Laryngoscope 119:1171–1179.) |
09i |
c.697-1G > C |
Substitution |
Splice site |
OI I |
Ghent, Belgium
|
09i |
c.697-1G > T (3) |
Substitution |
Splice site |
OI IV, unknown; OI I |
(Marini
et al., 2007Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom
S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, et al. (2007)
Consortium for osteogenesis imperfecta mutations in the helical domain of type I
collagen: regions rich in lethal mutations align with collagen binding sites for
integrins and proteoglycans. Hum Mutat 28:209–221.) Montreal, Canada
|
10 |
c.700_G-1del |
Deletion |
Frameshift |
OI I |
This study |
10 |
c.716G > A |
Substitution |
Missense |
OI IV |
(Marini
et al., 2007Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom
S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, et al. (2007)
Consortium for osteogenesis imperfecta mutations in the helical domain of type I
collagen: regions rich in lethal mutations align with collagen binding sites for
integrins and proteoglycans. Hum Mutat 28:209–221.) |
10 |
c.725G > A |
Substitution |
Missense |
unknown |
(Lee
et al., 2006Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S,
Jung SC and Koo SK (2006) Mutational spectrum of type I collagen genes in Korean
patients with osteogenesis imperfecta. Hum Mutat 27:599.) |
10 |
c.740C > T |
Substitution |
Missense |
OI I |
Valencia, Spain
|
10 |
c.742G > A |
Substitution |
Missense |
OI III |
(Marini
et al., 2007Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom
S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, et al. (2007)
Consortium for osteogenesis imperfecta mutations in the helical domain of type I
collagen: regions rich in lethal mutations align with collagen binding sites for
integrins and proteoglycans. Hum Mutat 28:209–221.) |
10 |
c.743G > A |
Substitution |
Missense |
OI III |
Montreal, Canada
|