| 1 | COL3A1, EDS4A
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| COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.
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| Leistritz DF, Pepin MG, Schwarze U, Byers PH.
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| Genet Med enet Med. 2011 Jun 1. [Epub ahead of print]
2011
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| 2 | COL3A1, EDS4A
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| Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.
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| Sadakata R, Hatamochi A, Kodama K, Kaga A, Yamaguchi T, Soma T, Usui Y, Nagata M, Ohtake A, Hagiwara K, Kanazawa M.
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| Intern Med 49(16):1797-800. Epub 2010 Aug 13.
2010
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| 3 | COL3A1, EDS4A
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| Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.
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| Plancke A, Holder-Espinasse M, Rigau V, Manouvrier S, Claustres M, Van Kien PK.
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| Eur J Hum Genet 17(11):1411-6. Epub 2009 May 20.PMID: 19455184 2009
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| 4 | COL3A1, EDS4A
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| A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome.
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| Okamoto O, Ando T, Watanabe A, Sato F, Mimata H, Shimada T, Fujiwara S.
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| Arch Dermatol Res 300(9):525-9. Epub 2008 Sep 9.
2008
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| 5 | EDS4A
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| Increased carotid wall stress in vascular Ehlers-Danlos syndrome.
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| Boutouyrie P, Germain DP, Fiessinger JN, Laloux B, Perdu J, Laurent S.
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| Circulation 109(12):1530-5. Epub 2004 Mar 8. 2004
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| 6 | EDS4A
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| Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.
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| Palmeri S, Mari F, Meloni I, Malandrini A, Ariani F, Villanova M, Pompilio A, Schwarze U, Byers PH, Renieri A.
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| Clin Genet 63(6):510-5. 2003
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| 7 | COL3A1, EDS4A
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| 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.
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| Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH.
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| Am J Hum Genet 69(5):989-1001. 2001
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| 8 | COL3A1, EDS4A
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| Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
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| Pepin M, Schwarze U, Superti-Furga A, Byers PH.
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| N Engl J Med 342(10):673-80. 2000
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| 9 | EDS1A, EDS1B, EDS2, EDS3, EDS4A, EDS6, EDS7A1, EDS7A2, EDS10, OHS
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| Ehlers-Danlos syndromes : revised nosology, Villefranche, 1997.
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| Beighton P, et al.
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| Am J Med Genet 77 : 31-37. 1998
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| 10 | COL3A1, EDS4A
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| Recurrent COL3A1 mutation results in EDS IV or familial aneurysms.
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| Anderson DW, et al.
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| Hum Mutat 9 : 475. 1997
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| 11 | COL3A1, EDS4A
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| Splicing defects in the COL3A1 gene : marked preference for 5' (donor) splice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
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| Schwarze U, Goldstein JA, Byers PH.
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| Am J Hum Genet 61(6):1276-86. 1997
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| 12 | COL3A1, EDS4A
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| A novel G499D substitution in the alpha1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.
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| McGrory J, et al.
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| Hum Mutat 7 : 59-60. 1996
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| 13 | EDS4A, COL3A1
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| Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III : clinical features, biochemical screening, and molecular confirmation.
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| Mackay K, et al.
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| Clin Genet 49 : 286-295. 1996
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| 14 | ACR, COL3A1, EDS4A, FAN
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| COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture.
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| Pope FM, et al.
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| Br J Dermatol 135 : 163-181. 1996
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| 15 | COL3A1, EDS4A
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| Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.
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| McGrory J, et al.
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| Clin Genet 50 : 442-445. 1996
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| 16 | COL3A1, EDS4A
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| Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
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| Tromp G, et al.
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| Hum Mutat 5 : 179-181. 1995
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| 17 | EDS4A, COL3A1
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| Ehlers-Danlos syndrome type IV : a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping.
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| Kuivaniemi H, et al.
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| J Invest Dermatol 105 : 352-356. 1995
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| 18 | EDS4A, COL3A1
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| Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.
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| Thakker-Varia S, et al.
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| Hum Mutat 6 : 116-125. 1995
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| 19 | EDS4A, COL3A1
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| Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.
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| Madhatheri SL, et al.
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| Hum Mol Genet 3 : 511-512. 1994
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| 20 | EDS4A, COL3A1
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| Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
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| Nuytinck L, et al.
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| Hum Mutat 3 : 268-274. 1994
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| 21 | EDS4A, COL3A1
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| Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV. (abstr)
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| Richards AJ, et al.
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| Hum Mol Genet 3 : 1901-1902. 1994
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| 22 | EDS4A, COL3A1
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| Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.
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| Narcisi P, et al.
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| Am J Med Genet 46 : 278-283. 1993
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| 23 | EDS4A, COL3A1
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| 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.
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| Lloyd J, et al.
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| J Med Genet 30 : 376-380. 1993
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| 24 | EDS4A, COL3A1
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| 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.
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| McGookey Milewicz D, et al.
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| Am J Hum Genet 53 : 62-70. 1993
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| 25 | COL3A1, EDS4A
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| 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.
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| Richards A, et al.
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| J Med Genet 30 : 690-693. 1993
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| 26 | COL3A1, EDS4A
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| Characterization of a glycine 769 to serine substitution in collagen type III in a three generation family with atypical EDS IV.
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| De Paepe A, et al.
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| Am J Hum Genet 53 : 1150. 1993
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| 27 | EDS4A
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| A 27-bp deletion from one allele of the type III collagen (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.
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| Richards AJ, et al.
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| Hum Genet 88 : 325-330. 1992
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| 28 | EDS4A
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| 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.
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| Richards AJ, et al.
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| Hum Genet 89 : 414-418. 1992
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| 29 | COL3A1, EDS4A
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| 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.
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| Kontusaari S, et al.
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| Am J Hum Genet 51 : 497-507. 1992
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| 30 | EDS4A, COL3A1
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| 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.
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| Richards AJ, et al.
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| J Med Genet 28 : 458-463. 1991
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| 31 | EDS4A
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| Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.
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| Sillence DO, et al.
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| J Med Genet 28 : 840-845. 1991
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| 32 | EDS4A
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| Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.
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| Lee B, et al.
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| Am J Hum Genet 48 : 511-517. 1991
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| 33 | EDS4A
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| Multi-exon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.
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| Vissing H, et al.
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| J Biol Chem 266 : 5244-5248. 1991
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| 34 | EDS4A
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| G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.
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| Lee B, et al.
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| J Biol Chem 266 : 5256-5259. 1991
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| 35 | FAN, EDS4A
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| Inheritance of an RNA splicing mutation (G+I 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.
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| Kontusaari S, et al.
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| Am J Hum Genet 47 : 112-120. 1990
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| 36 | EDS4A, COL3A1
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| 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.
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| Kuivaniemi H, et al.
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| J Biol Chem 265 : 12067-12074. 1990
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| 37 | EDS4A
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| A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
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| Cole WG, et al.
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| J Biol Chem 265 : 17070-17077. 1990
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| 38 | EDS4A
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| Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.
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| Superti-Furga A, et al.
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| Hum Genet 82 : 104-108. 1989
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| 39 | EDS4A, COL3A1
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| Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.
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| Nicholls AC, De Paepe A, Narcisi P, Dalgleish R, De Keyser F, Matton M, Pope FM.
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| Hum Genet 78 : 276-281. 1988
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| 40 | COL3A1, EDS4A
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| Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.
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| Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B.
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| J Biol Chem 263 : 6226-6232. 1988
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| 41 | EDS4A
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| Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.
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| Tsipouras P, et al.
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| Hum Genet 74 : 41-46. 1986
|