Literature DB >> 2319589

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.

A E Fryer1, M Upadhyaya, M Littler, P Bacon, D Watkins, P Tsipouras, P S Harper.   

Abstract

A large family with Wagner's vitreoretinal degeneration but none of the non-ocular features of Stickler's syndrome has been studied with gene probes for type II collagen. Recombination has been observed, thus excluding type II collagen as the site of mutation in this family. This report supports other published evidence that the Wagner-Stickler syndrome is genetically heterogeneous.

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Year:  1990        PMID： 2319589      PMCID： PMC1016927          DOI： 10.1136/jmg.27.2.91

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.

Authors:  G B STICKLER; P G BELAU; F J FARRELL; J D JONES; D G PUGH; A G STEINBERG; L E WARD
Journal:  Mayo Clin Proc       Date:  1965-06       Impact factor: 7.616

2.  Inherited retinal detachment.

Authors:  W V DELANEY; W PODEDWORNY; W H HAVENER
Journal:  Arch Ophthalmol       Date:  1963-01

3.  Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene.

Authors:  F O Sangiorgi; V Benson-Chanda; W J de Wet; M E Sobel; P Tsipouras; F Ramirez
Journal:  Nucleic Acids Res       Date:  1985-04-11       Impact factor: 16.971

4.  A three allele restriction fragment length polymorphism within the human Col2A1 gene.

Authors:  C M Strom
Journal:  Nucleic Acids Res       Date:  1988-09-26       Impact factor: 16.971

5.  The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

Authors:  C A Francomano; R M Liberfarb; T Hirose; I H Maumenee; E A Streeten; D A Meyers; R E Pyeritz
Journal:  Genomics       Date:  1987-12       Impact factor: 5.736

6.  Vitreoretinal degeneration as a sign of generalized connective tissue diseases.

Authors:  I H Maumenee
Journal:  Am J Ophthalmol       Date:  1979-09       Impact factor: 5.258
  6 in total
  17 in total

1.  Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.

Authors:  J Bonaventure; C Philippe; G Plessis; J Vigneron; C Lasselin; P Maroteaux; S Gilgenkrantz
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

2.  The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission. Graefe's Arch Clin Exp Ophthalmol (1994) 232:16-24.

Authors:  M P Snead; D K Newmann; A Poulson; J D Scott
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1995-12       Impact factor: 3.117

3.  Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

Authors:  Barbara Kloeckener-Gruissem; John Neidhardt; István Magyar; Henri Plauchu; Jean-Christophe Zech; Laurette Morlé; Sheila M Palmer-Smith; Moira J Macdonald; Véronique Nas; Andrew E Fry; Wolfgang Berger
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

Review 4.  Clinical and Molecular genetics of Stickler syndrome.

Authors:  M P Snead; J R Yates
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

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

Authors:  N N Ahmad; L Ala-Kokko; R G Knowlton; S A Jimenez; E J Weaver; J I Maguire; W Tasman; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-01       Impact factor: 11.205

6.  Molecular heterogeneity: a clinical dilemma. Clinical heterogeneity: a molecular dilemma.

Authors:  M Godfrey
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

Review 7.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

8.  Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

Authors:  J Spranger; H Menger; S Mundlos; A Winterpacht; B Zabel
Journal:  Pediatr Radiol       Date:  1994

9.  Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.

Authors:  P Vandenberg; J S Khillan; D J Prockop; H Helminen; S Kontusaari; L Ala-Kokko
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-01       Impact factor: 11.205

Review 10.  A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Authors:  N N Ahmad; D M McDonald-McGinn; E H Zackai; R G Knowlton; D LaRossa; J DiMascio; D J Prockop
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025
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