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A. Vogel, K. Holbrook, B. Steinmann, R. Gitzelmann, P. Byers (1979)
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.Laboratory investigation; a journal of technical methods and pathology, 40 2
Thomas Linsenmayer, E. Gibney, Frank Igoe, Marion Gordon, J. Fitch, L. Fessler, David Birk (1993)
Type V collagen: molecular structure and fibrillar organization of the chicken alpha 1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesisThe Journal of Cell Biology, 121
U. Schwarze, Mary Atkinson, G. Hoffman, D. Greenspan, P. Byers (2000)
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).American journal of human genetics, 66 6
A. Richards, S. Martin, A. Nicholls, J. Harrison, F. Pope, N. Burrows (1998)
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.Journal of Medical Genetics, 35
Jeffrey Marchant, Rita Hahn, T. Linsenmayer, David Birk (1996)
Reduction of type V collagen using a dominant-negative strategy alters the regulation of fibrillogenesis and results in the loss of corneal- specific fibril morphologyThe Journal of Cell Biology, 135
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
B. Steinmann, C. Giunta (2000)
The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum.American journal of medical genetics, 93 4
T. Kyriakides, Yu-hong Zhu, Lynne Smith, S. Bain, Zhantao Yang, Ming-Te Lin, K. Danielson, R. Iozzo, Mary LaMarca, C. McKinney, E. Ginns, P. Bornstein (1998)
Mice That Lack Thrombospondin 2 Display Connective Tissue Abnormalities That Are Associated with Disordered Collagen Fibrillogenesis, an Increased Vascular Density, and a Bleeding DiathesisThe Journal of Cell Biology, 140
I. Hausser, I. Anton‐Lamprecht (1994)
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Targeted Disruption of Decorin Leads to Abnormal Collagen Fibril Morphology and Skin FragilityThe Journal of Cell Biology, 136
R. Wenstrup, G. Langland, M. Willing, V. D'Souza, W. Cole (1996)
A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos Syndrome (Type I)Human Molecular Genetics, 5
J. Schalkwijk, M. Zweers, P. Steijlen, Willow Dean, G. Taylor, I. Vlijmen, Brigitte Haren, W. Miller, Jim Bristow (2001)
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.The New England journal of medicine, 345 16
N. Burrows, A. Nicholls, A. Richards, C. Luccarini, J. Harrison, J. Yates, F. Pope (1998)
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.American journal of human genetics, 63 2
Masato Orita, H. Iwahana, H. Kanazawa, K. Hayashi, T. Sekiya (1989)
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences of the United States of America, 86 8
M. Moradi-Améli, J. Rousseau, J. Kleman, M. Champliaud, M. Boutillon, J. Bernillon, J. Wallach, M. Rest (1994)
Diversity in the processing events at the N-terminus of type-V collagen.European journal of biochemistry, 221 3
P Beighton, A De Paepe, B Steinmann, P Tsipouras, RJ Wenstrup (1998)
Ehlers‐Danlos syndrome: revised nosology, Villefranche, 1997, 77
AC Nicholls, JE Oliver, S McCarron, JB Harrison, DS Greenspan, FM Pope (1996)
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers‐Danlos syndrome, 33
D. Birk, J. Fitch, J. Babiarz, K. Doane, T. Linsenmayer (1990)
Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter.Journal of cell science, 95 ( Pt 4)
K. Andrikopoulos, Xin Liu, D. Keene, R. Jaenisch, F. Ramirez (1995)
Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assemblyNature Genetics, 9
Grant Burch, Yan Gong, Wenhui Liu, R. Dettman, C. Curry, Lynne Smith, W. Miller, J. Bristow (1997)
Tenascin–X deficiency is associated with Ehlers–Danlos syndromeNature Genetics, 17
Y. Imamura, I. Scott, D. Greenspan (2000)
The pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains.The Journal of biological chemistry, 275 12
R. Wenstrup, J. Florer, M. Willing, C. Giunta, B. Steinmann, F. Young, M. Susic, W. Cole (2000)
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.American journal of human genetics, 66 6
Peter Rowe, D. Barron, Hugh Calkins, I. Maumenee, Patrick Tong, Michael Geraghty (1999)
Ehlers-Danlos syndrome.The Journal of pediatrics, 135 4
B. Steinmann, P. Royce, A. Superti-Furga (2003)
The Ehlers‐Danlos Syndrome
L. Nuytinck, Margarida Freund, Lieven Lagae, G. Piérard, Trinh Hermanns-Lě, A. Paepe (2000)
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.American journal of human genetics, 66 4
B Steinmann, PM Royce, A Superti‐Furga (2002)
Connective tissue and its heritable disorders: molecular, genetics and medical aspects
K. Michalickova, M. Susic, M. Willing, R. Wenstrup, W. Cole (1998)
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.Human molecular genetics, 7 2
A. Paepe, L. Nuytinck, I. Hausser, I. Anton‐Lamprecht, J. Naeyaert (1997)
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.American journal of human genetics, 60 3
H. Toriello, T. Glover, K. Takahara, P. Byers, Diane Miller, J. Higgins, D. Greenspan (1996)
A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of ItoNature Genetics, 13
Daniel Greenspan, H. Northrup, K. Au, Kimberly McAllister, C. Francomano, R. Wenstrup, D. Marchuk, D. Kwiatkowski (1995)
COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.Genomics, 25 3
B. Steinmann, V. Rao, A. Vogel, P. Bruckner, R. Gitzelmann, P. Byers (1984)
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.The Journal of biological chemistry, 259 17
A De Paepe, L Nuytinck (1998)
Biochemical and molecular study of type V collagen defects in 35 unrelated patients/families with classical Ehlers‐Danlos syndrome, 63
C. Giunta, B. Steinmann (2000)
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?American journal of medical genetics, 90 1
Skin hyperelasticity, tissue fragility with atrophic scars, and joint hypermobility are characteristic for the classical type of Ehlers‐Danlos syndrome (EDS). The disease is usually inherited as an autosomal dominant trait; however, recessive mode of inheritance has been documented in tenascin‐X‐deficient EDS patients. Mutations in the genes coding for collagen α1(V) chain (COL5A1), collagen α2(V) chain (COL5A2), tenascin‐X (TNX), and collagen α1(I) chain (COL1A1) have been characterized in patients with classical EDS, thus confirming the suspected genetic heterogeneity. Recently, we described a patient with severe classical EDS due to a Gly1489Glu substitution in the α1(V) triple‐helical domain who was, in addition, heterozygous for a disease‐modifying Gly530Ser substitution in the α1(V) NH2‐terminal domain [Giunta and Steinmann, 2000: Am. J. Med. Genet. 90:72–79; Steinmann and Giunta, 2000: Am. J. Med. Genet. 93:342]. Here, we report on a 4‐year‐old boy with mild classical EDS, born to healthy consanguineous Turkish parents; the mother presented a soft skin, while the father had a normal thick skin. Ultrastructural analysis of the dermis revealed in the patient the typical “cauliflower” collagen fibrils, while in both parents variable moderate aberrations were seen. Mutation revealed the presence of a homozygous Gly530Ser substitution in the α1(V) collagen chains in the patient, while both parents were heterozygous for the same substitution. An additional mutation in either the COL5A1 and COL5A2 genes was excluded. Furthermore, haplotype analysis with polymorphic microsatellite markers excluded linkage to the genes coding for α3(V) collagen (COL5A3), tenascin‐X (TNX), thrombospondin‐2 (THBS2), and decorin (DCN). These new findings support further our previous hypothesis that the heterozygous Gly530Ser substitution is disease modifying and now suggest that in the homozygous state it is disease causing. © 2002 Wiley‐Liss, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: Mar 15, 2003
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