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

Donoso, Larry A.; Edwards, Albert O.; Frost, Arcilee; Ritter, Robert; Ahmad, Nilofer Nina; Vrabec, Tamara R.; Rogers, Jerry; Meyer, David J.

doi:10.1016/s0002-9394(02)01638-0

Cited by 39 publications

(22 citation statements)

References 14 publications

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“…10,34,35 (ii) Splice site mutations resulting in alternatively spliced transcripts. 11 (iii) Differential effects of various amino-acid substitutions.…”

Section: Genetics and Molecular Mechanisms For Phenotypic Variationmentioning

confidence: 99%

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Snead

McNinch

Poulson

et al. 2011

Eye

140

141

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The entity described by Gunnar Stickler, which included hereditary arthroophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the most common clinical manifestation of the type II/XI collagenopathies and are the most common cause of inherited rhegmatogenous retinal detachment. This review article is intended to provide the ophthalmologist with an update on current research, subgroups, and their diagnosis together with a brief overview of allied conditions to be considered in the clinical differential diagnosis. We highlight the recently identified subgroups with a high risk of retinal detachment but with minimal or absent systemic involvementFa particularly important group for the ophthalmologist to identify.

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“…10,34,35 (ii) Splice site mutations resulting in alternatively spliced transcripts. 11 (iii) Differential effects of various amino-acid substitutions.…”

Section: Genetics and Molecular Mechanisms For Phenotypic Variationmentioning

confidence: 99%

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Snead

McNinch

Poulson

et al. 2011

Eye

140

141

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“…Our observations further supported the idea that, irrespective of race, mutations involving exon 2 of the COL2A1 gene are characterized by a predominantly ocular STL phenotype. 4,5 The existence of a predominantly ocular type of STL disorder may make an accurate diagnosis of the disease difficult, and the diagnosis of STL may be significantly overlooked in Japan. Although it has been proposed that radial perivascular retinal degeneration is a prominent feature of this predominantly ocular Stickler subset, 6 we did not observe this feature in our patient.…”

Section: Commentsmentioning

confidence: 99%

“…3 A subgroup of STL type I patients has been identified who are characterized by predominantly ocular disorders without systemic involvement. 4,5 It has been suggested that molecular genetics and scrutiny of the phenotype will provide evidence that clinicians require for accurate diagnosis. 2 However, several cases of STL with different degrees of severity and manifestations, and genetic background, have been reported mainly in the Western world.…”

mentioning

confidence: 99%

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I

Yamaji

Kuwahara

Yoshida

et al. 2005

Eye

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“…8 In these families, systemic features are uncommon. 9,10 Families with COL2A1 without detectable systemic features have been reported. 11 Related chondrodysplasias with mutations in COL2A1 and COL11A1 may also present with vitreoretinal degeneration.…”

Section: Clinical Featuresmentioning

confidence: 99%

Clinical features of the congenital vitreoretinopathies

Edwards

2008

Eye

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The inherited vitreoretinal degenerations or vitreoretinopathies are characterized by congenital and acquired disorders of the eye including early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively. Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13). The cataract is often cortical and may be wedge-shaped, but does not distinguish between the different syndromes. The congenital vitreous defect is usually characterized as fibrillar degeneration (STL2, WGN1, and SVD) or as a vestigial membrane just behind the lens (STL1). Peripheral chorioretinal atrophy with nyctalopia is prominent in WGN1. Intraretinal crystals may be visible in the periphery using a contact lens in SVD and corneal guttae, a flat appearance to the optic nerve head and mild atrophy of the peripheral retinal pigment epithelium are also common features. Other vitreoretinal degenerations including a number of chondrodysplasias in addition to STL1 and STL2, enhanced S-cone syndrome caused by mutations in NR2E3, and autosomal dominant vitreoretinochoroidopathy caused by mutations in VMD2 are discussed. Patients with unexplained early onset cataract or retinal detachment should be carefully evaluated for vitreoretinal degeneration. Theses diseases share overlapping clinical features with common complex traits affecting the eye (myopia, corneal endothelial dystrophy, lattice degeneration), and may provide insight into the mechanisms of common eye diseases.

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

Cited by 39 publications

References 14 publications

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I

Clinical features of the congenital vitreoretinopathies

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