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Andoni Echaniz-Laguna, A. Saint-Martin, A. Lafontaine, Edwin Tasch, Pierre Thomas, Edouard Hirsh, Christian Marescaux, F. Andermann (2000)
Bilateral focal polymicrogyria in Ehlers-Danlos syndrome.Archives of neurology, 57 1
U. Schwarze, J. Goldstein, P. Byers (1997)
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.American journal of human genetics, 61 6
(1998)
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
R. Lewkonia, F. Pope (1985)
Joint contractures and acroosteolysis in Ehlers-Danlos syndrome type IV.The Journal of rheumatology, 12 1
P. Beighton, A. Paepe, B. Steinmann, P. Tsipouras, R. Wenstrup (1998)
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).American journal of medical genetics, 77 1
F. Pope, A. Nicholls, P. Jones, R. Wells, D. Lawrence (1980)
EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types 1Journal of the Royal Society of Medicine, 73
M. Das, Saha Pk, Y. Mishra (1971)
Ehlers-Danlos syndrome.Journal of the Indian Medical Association, 57 11
(2001)
Disorders of collagen biosynthesis and structure
D. Milewicz, Aaron Witz, Ann Smith, D. Manchester, Gail Waldstein, P. Byers (1993)
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.American journal of human genetics, 53 1
W. Schievink, M. Limburg (1989)
Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV.Neurosurgery, 25 3
M. Aumailley, T. Krieg, W. Dessau, P. Müller, R. Timpl, H. Bricaud (1980)
Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos syndrome type IV. Demonstrate reduced type III collagen synthesis.Archives of dermatological research, 269 2
K. North, D. Whiteman, M. Pepin, P. Byers (1995)
Cerebrovascular complications in Ehlers‐Danlos syndrome type IVAnnals of Neurology, 38
T. Cox (1996)
The metabolic and molecular bases of inherited disease: Vols I, II and III (7th edn): edited by Charles R. Scriver, Arthur L. Beaudet, William S. Sly and David Valle McGraw-Hill, 1995, £195.00 hbk (4605 pages) ISBN 0 07 909826 6Trends in Genetics, 12
F. Pope, P. Narcisi, A. Nicholls, D. Germaine, G. Pals, A. Richards (1996)
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular ruptureBritish Journal of Dermatology, 135
D. Gilchrist, U. Schwarze, K. Shields, L. MacLaren, P. Bridge, P. Byers (1999)
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.American journal of medical genetics, 82 4
J. Bonadio, K. Holbrook, R. Gelinas, J. Jacob, P. Byers (1985)
Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.The Journal of biological chemistry, 260 3
Ndrea, Uperti, F, Urga, Eter, B. H., Yers
CLINICAL AND GENETIC FEATURES OF EHLERS – DANLOS SYNDROME TYPE IV , THE VASCULAR TYPE
P. Byers, K. Holbrook, Barsh Gs, L. Smith, P. Bornstein (1981)
Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts.Laboratory investigation; a journal of technical methods and pathology, 44 4
S. Kontusaari, Gerard Tromp, H. Kuivaniemi, Catherine Stolle, F. Pope, Darwin Prockop (1992)
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.American journal of human genetics, 51 3
F. Pope, P. Narcisi, A. Nicholls, M. Liberman, J. Oorthuys (1988)
Clinical presentations of Ehlers Danlos syndrome type IV.Archives of Disease in Childhood, 63
F. Pope, B. Kendall, G. Slapak, R. Kapoor, W. McDonald, D. Compston, R. Mitchell, D. Hope, M. Millar-Craig, J. Dean, A. Johnston, P. Lynch, P. Sarathchandra, P. Narcisi, A. Nicholls, A. Richards, J. Mackenzie (1991)
Type III collagen mutations cause fragile cerebral arteries.British journal of neurosurgery, 5 6
W. Schievink, V. Michels, D. Piepgras (1994)
Neurovascular Manifestations of Heritable Connective Tissue Disorders: A ReviewStroke, 25
U. Schwarze, Wouter Schievink, Wouter Schievink, Elizabeth Petty, Michael Jaff, D. Babovic‐Vuksanovic, Kenneth Cherry, M. Pepin, P. Byers (2001)
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.American journal of human genetics, 69 5
A. Richards, P. Ward, P. Narcisi, A. Nicholls, J. Lloyd, F. Pope (1992)
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 mutationHuman Genetics, 89
(1993)
Heritable Disorders of Connective Tissue, 5th edn
Ehlers Danlos syndrome type IV (EDS-IV) is an autosomal-dominant disorder caused by a defect of type III collagen which leads to ruptures of arteries and hollow organs. Neurological presentation with muscle involvement and flexion contractures of the finger joints is uncommon. We clinically characterized seven members of a family with EDS-IV. The index patient, a young woman with an acrogeric face, suffered chronic muscle pain and cramps, Achilles tendon retraction, finger flexion contractures and seizures. The mother had similar features and had experienced an ischemic stroke. Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV. A glycine substitution, p.G883V, within the triple helix of the 1(III) chain, was found in the index patient and in the mother. The maternal grandfather and an aunt each had an abdominal aoric aneurysm, the rupture of which was the cause of death in the latter, at 40 years of age. Surprisingly, we found the mutation, as a mosaic, in the asymptomatic maternal grandmother. This expands the clinical spectrum of EDS type IV and confirms that in some families mosaicism can be identified as the source of the mutation.
Clinical Genetics – Wiley
Published: Jun 1, 2003
Keywords: clinical evaluation; COL3A1 gene; EDS-IV; mosaicism; neurological disease
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