Literature DB >> 1895316

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

A J Richards1, J C Lloyd, P N Ward, A De Paepe, P Narcisi, F M Pope.   

Abstract

We have studied a patient with Ehlers-Danlos syndrome type IV. Protein mapping studies of her type III collagen had indicated that cyanogen bromide fragment 9 contained the site of the mutation. Here we describe the mapping of this region for a single base mutation using a chemical modification and cleavage technique. Sequence analysis of cDNA showed a G to T mutation resulting in the substitution of glycine 910 by valine. This was confirmed by allele specific oligonucleotide hybridisation to the proband's genomic DNA.

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Year:  1991        PMID： 1895316      PMCID： PMC1016955          DOI： 10.1136/jmg.28.7.458

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


  30 in total

1.  Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.

Authors:  H Kuivaniemi; S Kontusaari; G Tromp; M J Zhao; C Sabol; D J Prockop
Journal:  J Biol Chem       Date:  1990-07-15       Impact factor: 5.157

2.  Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries.

Authors:  W I Wood; J Gitschier; L A Lasky; R M Lawn
Journal:  Proc Natl Acad Sci U S A       Date:  1985-03       Impact factor: 11.205

3.  Collagen defects in lethal perinatal osteogenesis imperfecta.

Authors:  J F Bateman; D Chan; T Mascara; J G Rogers; W G Cole
Journal:  Biochem J       Date:  1986-12-15       Impact factor: 3.857

4.  Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity.

Authors:  D O Sillence; K K Barlow; A P Garber; J G Hall; D L Rimoin
Journal:  Am J Med Genet       Date:  1984-02

5.  Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts.

Authors:  P H Byers; K A Holbrook; G S Barsh; L T Smith; P Bornstein
Journal:  Lab Invest       Date:  1981-04       Impact factor: 5.662

6.  A comprehensive set of sequence analysis programs for the VAX.

Authors:  J Devereux; P Haeberli; O Smithies
Journal:  Nucleic Acids Res       Date:  1984-01-11       Impact factor: 16.971

7.  Genetic heterogeneity in osteogenesis imperfecta.

Authors:  D O Sillence; A Senn; D M Danks
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

8.  Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

Authors:  S Kontusaari; G Tromp; H Kuivaniemi; R L Ladda; D J Prockop
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

9.  Molecular cloning and carboxyl-propeptide analysis of human type III procollagen.

Authors:  H R Loidl; J M Brinker; M May; T Pihlajaniemi; S Morrow; J Rosenbloom; J C Myers
Journal:  Nucleic Acids Res       Date:  1984-12-21       Impact factor: 16.971

10.  Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II.

Authors:  J Bonadio; P H Byers
Journal:  Nature       Date:  1985 Jul 25-31       Impact factor: 49.962
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  13 in total

1.  A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

Authors:  A J Richards; J C Lloyd; P Narcisi; P N Ward; A C Nicholls; A De Paepe; F M Pope
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

2.  A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.

Authors:  P H Johnson; A J Richards; F M Pope; D A Hopkinson
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

Authors:  S Kontusaari; G Tromp; H Kuivaniemi; C Stolle; F M Pope; D J Prockop
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

4.  Spontaneous hemo-pneumothorax in a patient with Ehlers-Danlos syndrome.

Authors:  Rayees Ahmad Dar; Sabiya Hamid Wani; Majid Mushtaque; Reyaz Ahmad Kasana
Journal:  Gen Thorac Cardiovasc Surg       Date:  2012-05-19

5.  Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.

Authors:  L Nuytinck; P Narcisi; A Nicholls; J P Renard; F M Pope; A De Paepe
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

6.  A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.

Authors:  J Lloyd; P Narcisi; A Richards; F M Pope
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

7.  A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

Authors:  A J Richards; P N Ward; P Narcisi; A C Nicholls; J C Lloyd; F M Pope
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

8.  Achondroplasia and enchondromatosis in a female child.

Authors:  T Nizankowska-Blaz; S Wisz; K Kozlowski
Journal:  Skeletal Radiol       Date:  2003-05-28       Impact factor: 2.199

9.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

10.  The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.

Authors:  A Richards; P Narcisi; J Lloyd; C Ferguson; F M Pope
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318
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