A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome

Archives of Dermatological Research

Volumn 300, Issue 9, 2008, Pages 525-529

  Okamoto, Osamu ^a   Ando, Tadasuke ^a   Watanabe, Atsushi ^b   Sato, Fuminori ^a   Mimata, Hiromitsu ^a   Shimada, Takashi ^b   Fujiwara, Sakuhei ^a  

^a OITA UNIVERSITY   (Japan)

^b NIPPON MEDICAL SCHOOL HOSPITAL   (Japan)

Author keywords

Ehlers Danlos syndrome; Exon skipping; Type III collagen

Indexed keywords

COLLAGEN FIBER; COLLAGEN TYPE 3; GUANINE; MESSENGER RNA; THYMINE;

ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CONSULTATION; EHLERS DANLOS SYNDROME; ELECTRON MICROSCOPY; EXON; FALSE ANEURYSM; FIBROBLAST; HUMAN; INTRON; KIDNEY INFARCTION; MALE; MORPHOLOGY; MUSCLE BLEEDING; PNEUMOTHORAX; POINT MUTATION; PRIORITY JOURNAL; RENAL ARTERY ANEURYSM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; SKIN ATROPHY; SKIN BIOPSY; SKIN SCAR;

ADULT; COLLAGEN TYPE III; EHLERS-DANLOS SYNDROME; EXONS; HUMANS; MALE; POINT MUTATION; RNA, MESSENGER;

EID: 52549096701     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00403-008-0884-8     Document Type: Article

References (18)

1. T Ando H Ohno Y Hirata 2005 Spontaneous recovery from renal infarction resulting from renal artery dissection Int J Urol 12 405 408
2. P Beighton A De Paepe B Steinmann P Tsipouras RJ Wenstrup 1998 Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK) Am J Med Genet 77 31 37
3. Burton JL (1992) Disorders of connective tissue. In: Champion RH, Burton JL, Ebling FJG (eds) Textbook of dermatology. Blackwell, Oxford, pp 1791-1797
4. PH Byers 1995 Ehlers-Danlos syndrome type IV: a genetic disorder in many guises J Invest Dermatol 105 311 313
5. PH Byers KA Holbrook GS Barsh LT Smith P Bornstein 1981 Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts Lab Invest 44 336 341
6. AA Chiodo DO Sillence WG Cole JF Bateman 1995 Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix Biochem J 311 939 943
7. WG Cole AA Chiodo SR Lamande 1990 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 J Biol Chem 265 17070 17077
8. R Dalgleish 1998 The human collagen mutation database Nucleic Acids Res 26 253 255
9. H Kuivaniemi G Tromp WF Bergfeld M Kay TN Helm 1995 Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping J Invest Dermatol 105 352 356
10. H Kuivaniemi G Tromp DJ Prockop 1997 Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels Hum Mutat 9 300 315
11. X Liu H Wu M Byrne 1997 Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development Proc Natl Acad Sci USA 94 1852 1856
12. M Pepin U Schwarze A Superti-Furga PH Byers 2000 Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type N Engl J Med 342 673 680
13. U Schwarze JA Goldstein PH 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 Am J Hum Genet 61 1276 1286
14. U Schwarze WI Schievink E Petty 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 Am J Hum Genet 69 989 1001
15. LT Smith U Schwarze J Goldstein PH Byers 1997 Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis J Invest Dermatol 108 241 247
16. Steinmann B, Superti-Furga A, Royce PM (1993) The Ehlers-Danlos syndrome. In: Royce PM, Steinmann B (eds) Connective tissue and its heritable disorders: molecular, genetic and medical aspects. Wiley-Liss, New York, pp 351-407
17. Tanaka S (1989) SDS-polyacrylamide gel electrophoresis (SDS-PAGE). In: Nagai Y, Fujimoto D (eds) Experimental method for collagens. Kodansha, Tokyo, pp 63-77
18. A Watanabe T Kosho T Wada 2007 Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDS IV) in Japan Circul J 71 261 265