Literature DB >> 1684560

Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.

B P Sokolov1, A N Prytkov, G Tromp, R G Knowlton, D J Prockop.   

Abstract

Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations suggested that the syndrome may be caused by mutations in the genes for type-I collagen (COL1A1 and COL1A2) or type-III collagen (COL3A1). Here, we performed linkage studies for these three genes in large Azerbaijanian family with EDS type I. Three polymorphisms in the COL3A1 gene, two in the COL1A1 gene, and one in the COL1A2 gene were tested using the polymerase chain reaction. The data obtained excluded linkage of any of the three genes to EDS type I in the family.

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Year:  1991        PMID： 1684560     DOI： 10.1007/bf00206058

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  46 in total

1.  Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome.

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Journal:  Birth Defects Orig Artic Ser       Date:  1975

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Authors:  S R Pinnell; S M Krane; J E Kenzora; M J Glimcher
Journal:  N Engl J Med       Date:  1972-05-11       Impact factor: 91.245

4.  Same-day, first-trimester antenatal diagnosis for cystic fibrosis by gene amplification.

Authors:  C Williams; R Williamson; C Coutelle; F Loeffler; J Smith; A Ivinson
Journal:  Lancet       Date:  1988-07-09       Impact factor: 79.321

5.  Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.

Authors:  D Weil; M D'Alessio; F Ramirez; D R Eyre
Journal:  J Biol Chem       Date:  1990-09-15       Impact factor: 5.157

6.  Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases.

Authors:  C A Stolle; R E Pyeritz; J C Myers; D J Prockop
Journal:  J Biol Chem       Date:  1985-02-10       Impact factor: 5.157

7.  Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

Authors:  G Tromp; H Kuivaniemi; C Stolle; F M Pope; D J Prockop
Journal:  J Biol Chem       Date:  1989-11-15       Impact factor: 5.157

8.  Presumed homozygous Ehlers-Danlos syndrome type I in a highly inbred kindred.

Authors:  S I Kozlova; A N Prytkov; O E Blinnikova; F A Sultanova; D N Bochkova
Journal:  Am J Med Genet       Date:  1984-08

9.  [Genetic analysis of the Ehlers-Danlos syndrome in a large family tree].

Authors:  A N Prytkov; S I Kozlova; F A Sultanova; O E Blinnikova; I V Gar'kavtsev
Journal:  Genetika       Date:  1984-05

10.  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.

Authors:  D R Eyre; F D Shapiro; J F Aldridge
Journal:  J Biol Chem       Date:  1985-09-15       Impact factor: 5.157
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  7 in total

1.  Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

Authors:  U Schwarze; M Atkinson; G G Hoffman; D S Greenspan; P H Byers
Journal:  Am J Hum Genet       Date:  2000-05-04       Impact factor: 11.025

2.  Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

Authors:  A De Paepe; L Nuytinck; I Hausser; I Anton-Lamprecht; J M Naeyaert
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

3.  Regulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendon.

Authors:  Richard J Wenstrup; Simone M Smith; Jane B Florer; Guiyun Zhang; David P Beason; Robert E Seegmiller; Louis J Soslowsky; David E Birk
Journal:  J Biol Chem       Date:  2011-04-05       Impact factor: 5.157

4.  COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

Authors:  R J Wenstrup; J B Florer; M C Willing; C Giunta; B Steinmann; F Young; M Susic; W G Cole
Journal:  Am J Hum Genet       Date:  2000-04-24       Impact factor: 11.025

5.  Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.

Authors:  J Körkkö; L Ala-Kokko; A De Paepe; L Nuytinck; J Earley; D J Prockop
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

6.  An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Authors:  A C Nicholls; J E Oliver; S McCarron; J B Harrison; D S Greenspan; F M Pope
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

7.  Identification of a de novo case of COL5A1-related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care.

Authors:  Amr Wardeh; Tyson Jackson; Beverly Nelson; Carl Ernst; Jean-François Théroux; Walla Al-Hertani; Andrew K Sobering; Mary C Maj
Journal:  Clin Case Rep       Date:  2018-10-15
  7 in total

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