Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene (Q28189993)

Europe PubMed Central

title

Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene (English)

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1 reference

Larry A Donoso

1

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Albert O Edwards

2

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Arcilee T Frost

3

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Robert Ritter

4

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Nina Ahmad

5

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Tamara Vrabec

6

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Jerry Rogers

7

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David Meyer

8

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Scott Parma

9

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language of work or name

English

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publication date

2003

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Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

PubMed

published in

Survey of Ophthalmology

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volume

48

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issue

2

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page(s)

191-203

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cites work

1 reference

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7 January 2021

Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes

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Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene

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Identification of alternatively spliced variants of type II procollagen in vitreous

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A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.

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[On the clinical manifestation and pathology of degeneratio hyaloideoretinalis hereditaria (Wagner)]

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Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14

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Procollagen II Gene Mutation in Stickler Syndrome

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RETINO-CHOROIDITIS RADIATA.

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Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family

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7 January 2021

Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability

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7 January 2021

The Wagner-Stickler syndrome complex

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Wagner vitreoretinal degeneration. Follow-up of the original pedigree.

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7 January 2021

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration

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7 January 2021

The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness

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Ocular abnormalities in transgenic mice harboring mutations in the type II collagen gene

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7 January 2021

Prevalence of mitral-valve prolapse in the Stickler syndrome

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The Wagner-Stickler syndrome: A study of 22 families

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Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

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Chick cartilage collagen: a new type of alpha 1 chain not present in bone or skin of the species

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Preferential expression of alternatively spliced mRNAs encoding type II procollagen with a cysteine-rich amino-propeptide in differentiating cartilage and nonchondrogenic tissues during early mouse development.

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Genetics and hearing loss: a review of Stickler syndrome

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Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case

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7 January 2021

Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations

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7 January 2021

Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3

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Heritable diseases of collagen

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COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

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A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

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7 January 2021

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis

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Alternatively spliced type II procollagen mRNAs define distinct populations of cells during vertebral development: differential expression of the amino-propeptide

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7 January 2021

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

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7 January 2021

Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1

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7 January 2021

Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey

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7 January 2021

Genetic and clinical heterogeneity of Stickler syndrome

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7 January 2021

Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons

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7 January 2021

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred

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7 January 2021

Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14

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7 January 2021

Biochemistry of the Intervertebral Disc

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Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

12686304

1 reference

Consolidated OpenCitations Corpus – April 2017