Mutation in the COL2A1 Gene: Causes & Reasons

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Possible Causes for Mutation in the COL2A1 Gene

Czech Metatarsal Dysplasia

Similarities between individuals with this dysplasia and patients with an R275C mutation in the COL2A1 gene, prompted us to analyze the COL2A1 gene in the original families [ncbi.nlm.nih.gov]

The R275C mutation in the COL2A1 gene causes a specific type II collagen disorder that was recently delineated as Czech dysplasia.}, author = {Hoornaert, Kristien and Marik [biblio.ugent.be]

Czech dysplasia is caused by a particular mutation in the COL2A1 gene. The COL2A1 gene provides instructions for making a protein that forms type II collagen. [ghr.nlm.nih.gov]

Non-Syndromic Ocular Stickler Syndrome Type 1

DNA analysis revealed heterozygous mutation c.2710C>T (p.Arg904Cys) in exon 41 of COL2A1 gene. [hindawi.com]

@article{Go2003AutosomalDR, title={Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.}, author={Sioe Lie Go and [semanticscholar.org]

Genetic analysis conﬁrmed a mutation of the COL2A1 gene at locus 12q13 in this child. [docksci.com]

Stickler Syndrome

PURPOSE: To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. [ncbi.nlm.nih.gov]

We report here the characterization of a COL2A1 gene mutation in the original kindred described by Stickler et al. [1965]. [ncbi.nlm.nih.gov]

Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome. [ncbi.nlm.nih.gov]

Spondyloepiphyseal Dysplasia Congenita

Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up. [ghr.nlm.nih.gov]

Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita. [ghr.nlm.nih.gov]

Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

Screening for mutations in the COL2A1 gene using PCR-denaturing gradient get electrophoresis suggested a sequence variation in exon 19 of one allele of the COL2A1 gene in [ncbi.nlm.nih.gov]

The mutation, which resides in the triple-helical region of type II procollagen at amino acid position 75, is the second example of an Arg-->Cys mutation in the COL2A1 gene [ncbi.nlm.nih.gov]

Snowflake Vitreoretinal Degeneration

The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. [jmg.bmj.com]

Types I and II Stickler syndrome, respectively caused by mutations in the COL2A1 gene encoding type II collagen 44 and in the COL11A1 gene encoding type XI collagen, 45 can [clinicalgate.com]

2 of the COL2A1 gene. [ncbi.nlm.nih.gov]

Kniest Dysplasia

Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

Causes Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [medlineplus.gov]

Term Name: Kniest dysplasia Search Ontology: Synonyms: Definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism [zfin.org]

Legg-Calve-Perthes Disease

Mutations in the COL2A1 gene can cause bone abnormalities characteristics Calve Legg-Perthes. [ivami.com]

We report 2 generations of 4 male family members with LCPD-like features and mutation of the COL2A1 gene of the 12q13 chromosome. [ncbi.nlm.nih.gov]

We report the cases of two children who presented with abnormal development of both hips and in whom novel mutations in the COL2A1 gene were found. [ncbi.nlm.nih.gov]

Spondyloperipheral Dysplasia

Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules. [en.wikipedia.org]

Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene, located on chromosome 12q13.11-q13.2. [en.wikipedia.org]

Spondyloepimetaphyseal Dysplasia Type Strudwick

Spondyloepimetaphyseal dysplasia, Strudwick type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

Stickler syndrome -- Mutations in the COL2A1 gene are the cause of Stickler syndrome, COL2A1. [medicinenet.com]

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet. 1995 Sep;11(1):87-9. [ghr.nlm.nih.gov]

X-Linked Spondyloepimetaphyseal Dysplasia

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. [journals.plos.org]

[…] in the COL2A1 gene. [ipfs.io]

A form of dwarfism (skeletal dysplasia) Affects bone growth Linked to Chromosome 12q13 Can be caused by a mutation in the COL2A1 gene Can be inherited from parents who also [littlepeopleuk.org]

Spondyloepiphyseal Dysplasia Type Cantú

Etiology SEDC is caused by mutation in the COL2A1 gene (locus 12q13.11-q13.2). Genetic counseling The inheritance is autosomal dominant. [orpha.net]

[…] in the COL2A1 gene. [en.wikipedia.org]

SEDC is caused by mutations in the type II collagen ( COL2A1 ) gene. [rarediseases.org]

Stickler Syndrome Type 5

The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. [jmg.bmj.com]

Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. [diseaseinfosearch.org]

Mutations in the COL2A1 gene cause Stickler syndrome, type I. Individuals with mutations in exon 2 of the COL2A1 gene have an ocular variant of Stickler syndrome. [slideplayer.com]

Autosomal Dominant Oto-Spondylo-Megaepiphyseal Dysplasia

Autosomal dominant inheritance caused by mutation in either the COL2A1 gene on 12q, COL11A1 gene on 1p, or COL11A2 gene on 6p. Synonym(s): Stickler syndrome. [medical-dictionary.thefreedictionary.com]

Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. [diseaseinfosearch.org]

There are multiple types of Stickler syndrome, each due to mutation in a different gene: One form of Stickler syndrome is due to mutation in the COL2A1 gene on chromosome [medicinenet.com]

Stickler Syndrome Type 2

Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. [diseaseinfosearch.org]

The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. [cags.org.ae]

Hypochondrogenesis

[…] in human normal and hypochondrogenesis cartilage canals. ( 7843983 ) Le Guellec D....Herbage D. 1994 10 Mutation in the COL2A1 gene in a patient with hypochondrogenesis. [malacards.org]

What genes are related to hypochondrogenesis? Mutations in the COL2A1 gene cause hypochondrogenesis. [medic8.com]

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 2000 May 15;92(2):95-100. [ghr.nlm.nih.gov]

Achondrogenesis Type 2

mutations of the COL2A1 gene. [emedicine.medscape.com]

Mutations in a gene called COL2A1 cause achondrogenesis type II, which is the most severe condition in a spectrum of disorders caused by mutations in the COL2A1 gene. [medicinenet.com]

Achondrogenesis, type 2 is one of several skeletal disorders caused by mutations in the COL2A1 gene. [the-medical-dictionary.com]

Achondrogenesis Type 1B

mutations of the COL2A1 gene. [emedicine.medscape.com]

Achondrogenesis type 2 is one of several skeletal disorders that result from mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

Mutations in a gene called COL2A1 cause achondrogenesis type II, which is the most severe condition in a spectrum of disorders caused by mutations in the COL2A1 gene. [medicinenet.com]

Achondrogenesis

Achondrogenesis type 2 is one of several skeletal disorders that result from mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

mutations of the COL2A1 gene. [emedicine.medscape.com]

The mutations in the COL2A1 gene were identified by denaturing gradient gel electrophoresis analysis of genomic DNA followed by dideoxynucleotide sequencing and restriction [ncbi.nlm.nih.gov]

Spondylo-Ocular Syndrome

The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. [jmg.bmj.com]

These mutations cause loss of function of the COL2A1 gene. The majority of these mutations are associated with normal stature and early onset osteoarthritis. [rarediseases.org]

Other types of mutations in the COL2A1 gene have been associated with spondyloepiphyseal dysplasia congenita, Kniest dysplasia, achondrogenesis type II, hypochondrogenesis [jmg.bmj.com]

Familial Calcium Pyrophosphate Deposition

Mutations in the COL2A1 gene have been identified in one family with spondyloepiphyseal dysplasia and secondary deposits of pyrophosphate and apatite crystalline deposits. [ncbi.nlm.nih.gov]

Bleasel JF, Bisagni-Faure A, Holderbaum D: Type procollagen gene (COL2A1 mutation in exon II associated with spon-dyloepiphyseal dysplasia, tall stature and osteoarthritis [link.springer.com]

Bleasel JF, Holderbaum D, Mallock V, et al. : Hereditary with mild spondyloepiphyseal dysplasia—are there "hot spots" on COL2A1. J Rheum 1996, 1594–1598. [link.springer.com]

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

Cause [ edit ] This condition is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [en.wikipedia.org]

SEDC is caused by mutations in the type II collagen ( COL2A1 ) gene. [rarediseases.org]

Stickler syndrome has been associated with stop mutations in COL2A1 and with missense and splicing mutations in all of the three genes. [encyclopedia.com]

High Myopia-Sensorineural Deafness Syndrome

Molecular Genetic Testing Mutations in three genes, COL2A1, COL11A1, and COL11A2 ... [ibis-birthdefects.org]

No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to a codon for glutamate at [genome.jp]

[…] in COL2A1 gene on chromosome 12 24. [slideshare.net]

Severe Short Stature

In humans, mutations in the COL2A1 gene encoding the α1(II) chain of type II collagen, create many clinical phenotypes collectively termed type II collagenopathies. [ncbi.nlm.nih.gov]

Mutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. [ncbi.nlm.nih.gov]

A genetic mutation from the COL2A1 gene is the main cause of the skeletal disease. Metaphyseal chondrodysplasia. [howshealth.com]

Spondylometaphyseal Dysplasia Type Kozlowski

Causes The cause of spondylometaphyseal dysplasia is mutations in the COL2A1 gene, responsible for forming type II collagen; which is necessary for normal bone & connective [signssymptoms.org]

Causes The cause of spondylometaphyseal dysplasia is mutations in the COL2A1 gene, responsible for forming type II collagen; which is necessary for normal bone and connective [medigest.uk]

Other reports, however, have evaluated the presence of mutations in the collagen 2 alpha 1 (COL2A1) gene and parathyroid hormone 1 receptor (PTH1R), but clear genetic markers [symptoma.com]

Knobloch Syndrome Type 1

Most have premature termination mutations of the COL2A1 gene and are characterized by a membranous vitreous appearance on biomicroscopy. [aibolita.com]

Types I and II Stickler syndrome, respectively caused by mutations in the COL2A1 gene encoding type II collagen 44 and in the COL11A1 gene encoding type XI collagen, 45 can [entokey.com]

A→G Transition at the 3′ acceptor splice site of IVS17 characterises the COL2A1 gene mutation in the original Stickler syndrome kindred. [nature.com]

Stickler Syndrome Type 4

Results COL2A1 mutations Seventeen different mutations (5 nonsense, 4 splicing and 8 deletion mutations) in the COL2A1 gene were identified in 21 of the 23 families (91.3% [nature.com]

Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. [diseaseinfosearch.org]

The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. [jmg.bmj.com]

Spondyloepiphyseal Dysplasia Tarda Type Kohn

Achondrogenesis type 2 : Several kinds of mutations in the COL2A1 gene are responsible for achondrogenesis, type 2. [wikidoc.org]

"A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia". [ipfs.io]

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. [journals.plos.org]

Spondyloepiphyseal Dysplasia Type Nishimura

PCR technique and direct nucleotide sequencing were conducted to identify mutations in the COL2A1 gene. [springermedizin.de]

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. [journals.plos.org]

SED is generally caused by mutations in the COL2A1 gene which lead to a deficiency in type II collagen. [medical-genetics.de]

Achondrogenesis, Type 1A

mutations of the COL2A1 gene. [emedicine.medscape.com]

Achondrogenesis type 2 is one of several skeletal disorders that result from mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

Mutations in a gene called COL2A1 cause achondrogenesis type II, which is the most severe condition in a spectrum of disorders caused by mutations in the COL2A1 gene. [medicinenet.com]