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. Author manuscript; available in PMC: 2015 Mar 1.
Published in final edited form as: Bone. 2013 Dec 31;60:246–251. doi: 10.1016/j.bone.2013.12.030

Table 1.

Type I Collagen Disorders Genotype Phenotype Relationships.

Type I Collagen Disorder OMIM Inheritance Clinical Features Gene Defect Molecular Genetics
Osteogenesis Imperfecta, Type I 166200 Autosomal Dominant Mild and non-deforming: Fractures with little or no limb deformity, blue sclerae, normal stature, dentinogenesis imperfecta, hearing loss. null COL1A1 Frameshifts or premature termination codon in COL1A1.
Osteogenesis Imperfecta, Type II 166210 Autosomal Dominant Perinatal lethal: In utero fractures and bone deformity, blue sclerae, undermineralized skull, platyspondyly COL1A1 or COL1A2 Glycine substitutions in COL1A1 or COL1A2.
Osteogenesis Imperfecta, Type III 259420 Autosomal Dominant Severely deforming: High fracture incidence with moderate bone deformity, blue/grey sclerae, very short stature, dentinogenesis imperfecta COL1A1 or COL1A2 Glycine substitutions in COL1A1 or COL1A2.
Osteogenesis Imperfecta, Type IV 166220 Autosomal Dominant Moderately deforming: Fractures with mild limb deformity, normal sclerae, variable short stature, dentinogenesis imperfecta, hearing loss. COL1A1 or COL1A2 Glycine substitutions in COL1A1 or COL1A2.
Ehlers-Danlos Syndrome, Type I 130000 Autosomal Dominant Marked skin involvement - fragile, bruisable and hyperextensible skin, joint laxity and subluxation. COL1A1 Arginine to cysteine substitution (R134C) in COL1A1
Ehlers-Danlos Syndrome, Type VIIA 130060 Autosomal Dominant Joint laxity and subluxations, congenital hip dislocations, minimal skin involvement COL1A1 Splice- junction mutations of exon 6 in COL1A1
Ehlers-Danlos Syndrome VIIB 130060 Autosomal Dominant Joint laxity and subluxations, congenital hip dislocations, minimal skin involvement COL1A2 Exon 6 deletions in COL1A2
Ehlers-Danlos Syndrome, Cardiac Valvular 225320 Autosomal Recessive Valvular insufficiency, joint laxity and subluxations, hyperextensible skin null COL1A2 Premature termination codon in COL1A2
Caffey Disease 114000 Autosomal Dominant Joint laxity and subluxation, hyperextensible skin with normal appearance, cortical hyperostosis COL1A1 Arginine to cysteine substitution (R836C) in COL1A1