Gene: COL1A2

Alternate names for this Gene: EDSARTH2|EDSCV|OI4

Gene Summary: This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.3

Description of this Gene: collagen type I alpha 2 chain

Type of Gene: protein-coding

rs42528 in COL1A2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057516036 in COL1A2 gene and Bowing of the long bones PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs3736638 in COL1A2 gene and Cytokine Measurement PMID 22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

rs66883877 in COL1A2 gene and Dentinogenesis Imperfecta PMID 26788535 2016 The dentin phosphoprotein repeat region and inherited defects of dentin.

rs10255021 in COL1A2 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs72658127 in COL1A2 gene and Dysmorphic features PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

PMID 17078022 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.

PMID 9557891 1998 Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

PMID 8071956 1994 The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

PMID 9295084 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.

PMID 2824475 1987 Organization of the human pro-alpha 2(I) collagen gene.

PMID 458828 1979 Genetic heterogeneity in osteogenesis imperfecta.

PMID 24140640 2013 Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 28625337 2018 Osteogenesis imperfecta - A clinical update.

PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

PMID 28916840 2018 A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.

PMID 2010058 1991 Mutations in collagen genes: causes of rare and some common diseases in humans.

PMID 21912751 2011 Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.

rs1410254723 in COL1A2 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 9016532 1997 The human type I collagen mutation database.

PMID 19344236 2009 Collagen structure and stability.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 17078022 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.

PMID 16816023 2006 Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

PMID 27510842 2017 Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

PMID 2993307 1985 A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

PMID 3372533 1988 Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

PMID 6092353 1984 Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 26627451 2015 Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

PMID 27748872 2016 Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.

PMID 7860070 1995 A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

PMID 9272740 1997 Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.

PMID 22589248 2012 Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.

PMID 16705691 2006 Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

PMID 26371943 2018 Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations.

PMID 26432670 2015 Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

PMID 28498836 2017 Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.

PMID 27519266 2016 Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 24501682 2013 Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

PMID 8829649 1996 Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

PMID 28810924 2017 Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.

PMID 26138843 2015 Genetics of Osteoporosis in Children.

PMID 22206639 2011 Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

PMID 21667357 2012 The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

PMID 11288717 2001 Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.

PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

PMID 24342908 2014 Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience.

PMID 23692737 2013 Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.

PMID 22753364 2012 Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta.

PMID 26177859 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 28378289 2017 Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.

PMID 23934635 2014 A rare case of osteogenesis imperfecta combined with complete tooth loss.

PMID 26471105 2016 Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

PMID 15241796 2004 Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.

PMID 29595812 2018 Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

PMID 8094076 1993 Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.

PMID 25450603 2015 Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

rs1554395471 in COL1A2 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 PMID 2993307 1985 A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

PMID 6092353 1984 Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

PMID 16816023 2006 Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

PMID 27510842 2017 Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

PMID 3372533 1988 Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

PMID 19344236 2009 Collagen structure and stability.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 9016532 1997 The human type I collagen mutation database.

PMID 17078022 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.

PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

PMID 18996919 2009 Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

PMID 27509835 2016 DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.

PMID 1990009 1991 The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.

PMID 11359465 2001 Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta.

PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 9099837 1997 Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.

rs1057516036 in COL1A2 gene and Increased susceptibility to fractures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1114167416 in COL1A2 gene and Lobstein Disease PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 19344236 2009 Collagen structure and stability.

PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 17078022 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.

PMID 9016532 1997 The human type I collagen mutation database.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 6092353 1984 Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

PMID 27510842 2017 Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

PMID 2993307 1985 A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

PMID 3372533 1988 Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

PMID 16816023 2006 Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 26627451 2015 Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

PMID 27748872 2016 Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.

PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

PMID 18996919 2009 Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

PMID 22589248 2012 Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.

PMID 7860070 1995 A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

PMID 9272740 1997 Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.

PMID 16705691 2006 Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

PMID 26371943 2018 Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations.

PMID 26432670 2015 Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

PMID 11359465 2001 Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta.

PMID 1990009 1991 The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.

PMID 27509835 2016 DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.

PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PMID 28810924 2017 Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.

PMID 26138843 2015 Genetics of Osteoporosis in Children.

PMID 22206639 2011 Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

PMID 28498836 2017 Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.

PMID 21667357 2012 The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

PMID 24501682 2013 Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

PMID 27519266 2016 Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

PMID 8829649 1996 Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

PMID 11288717 2001 Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.

PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

PMID 24342908 2014 Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience.

PMID 23692737 2013 Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.

PMID 22753364 2012 Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta.

PMID 26177859 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 28378289 2017 Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.

PMID 23934635 2014 A rare case of osteogenesis imperfecta combined with complete tooth loss.

PMID 26471105 2016 Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

PMID 8456807 1993 Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.

PMID 9099837 1997 Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.

PMID 29595812 2018 Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

PMID 15241796 2004 Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.

PMID 8094076 1993 Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.

PMID 25450603 2015 Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

rs1554396271 in COL1A2 gene and Multiple congenital anomalies PMID 9557891 1998 Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 28625337 2018 Osteogenesis imperfecta - A clinical update.

PMID 458828 1979 Genetic heterogeneity in osteogenesis imperfecta.

PMID 8071956 1994 The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

PMID 21912751 2011 Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.

PMID 9295084 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.

PMID 2824475 1987 Organization of the human pro-alpha 2(I) collagen gene.

PMID 28916840 2018 A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.

PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

PMID 2010058 1991 Mutations in collagen genes: causes of rare and some common diseases in humans.

PMID 24140640 2013 Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

PMID 17078022 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.

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

rs1114167412 in COL1A2 gene and Osteogenesis imperfecta type III (disorder) PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PMID 8800927 1996 Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.

PMID 7520724 1994 Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.

PMID 7749416 1995 A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

PMID 1990009 1991 The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.

PMID 7881420 1994 Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

PMID 8723681 1996 Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.

PMID 8081394 1994 A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.

PMID 10408781 1999 Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 7860070 1995 A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

PMID 7720740 1995 Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation.

PMID 8444468 1993 A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

PMID 8829649 1996 Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

PMID 8456807 1993 Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.

rs66883877 in COL1A2 gene and Osteogenesis imperfecta type IV (disorder) PMID 2897363 1988 Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 7693712 1993 Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.

PMID 2064612 1991 Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.

PMID 8094076 1993 Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.

PMID 8800927 1996 Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.

PMID 1642148 1992 Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV.

PMID 2052622 1991 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.

PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PMID 8401517 1993 Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.

PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

rs1206388800 in COL1A2 gene and Osteogenesis imperfecta, dominant perinatal lethal PMID 1874719 1991 Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 1339453 1992 Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat pattern.

PMID 10627137 1998 Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.

PMID 1385413 1992 Incorporation of type I collagen molecules that contain a mutant alpha 2(I) chain (Gly580-->Asp) into bone matrix in a lethal case of osteogenesis imperfecta.

PMID 7891382 1994 Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.

PMID 7906591 1993 A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.

PMID 1284475 1992 Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.

PMID 18996919 2009 Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

PMID 7959683 1994 Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen.

PMID 2777764 1989 Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.

PMID 7693712 1993 Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.

PMID 2914942 1989 A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix.

PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PMID 8182080 1994 Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.

rs1057516036 in COL1A2 gene and Osteogenesis imperfecta, recessive perinatal lethal PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516036 in COL1A2 gene and Osteopenia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs35820023 in COL1A2 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.