Ehlers-Danlos syndrome type IV with few extrathoracic findings: A newly recognized point mutation in the COL3A1 gene

European Respiratory Journal

Volumn 19, Issue 1, 2002, Pages 195-198

  Watanabe, A ^a   Kawabata, Y ^a   Okada, O ^a   Tanabe, N ^a   Kimura, H ^a   Hatamochi, A ^a   Shinkai, H ^a   Sakai, N ^a   Shimaada, T ^a   Hiroshima, K ^a   Kuriyama, T ^a  

^a CHIBA UNIVERSITY   (Japan)

Author keywords

Cavitary formation in the lung; Ehlers Danlos syndrome type IV; Friability of lung tissue; Massive haemoptysis

Indexed keywords

COLLAGEN TYPE 3; PROCOLLAGEN;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CLINICAL OBSERVATION; COLLAGEN SYNTHESIS; CONNECTIVE TISSUE; DISEASE CLASSIFICATION; EHLERS DANLOS SYNDROME; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; HEMOPTYSIS; HUMAN; LUNG BIOPSY; LUNG CAVITATION; POINT MUTATION; PRIORITY JOURNAL; RECURRENT DISEASE; RESPIRATORY TRACT DISEASE; THORACOTOMY; THORAX DISEASE; TISSUE INJURY;

ADOLESCENT; COLLAGEN; COLLAGEN TYPE III; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; POINT MUTATION;

EID: 18244366657     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.02.00219202     Document Type: Article

References (23)

1. The Ehlers-Danlos syndrome: A heritable collagen disorder as cause of bleeding
2. Inherited disorders of connective tissue
3. Ehlers-Danlos syndromes: Revised nosology Villefranche, 1997
4. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
5. Fatal hemoptysis in Ehlers-Danlos syndrome. Old malady with a new curse
6. Respiratory complications of Ehlers-Danlos syndrome type IV
7. Fibrous pseudotumours and cyst formation in the lungs in Ehlers-Danlos syndrome
8. Cavitary pulmonary lesions in type IV Ehlers-Danlos syndrome
9. Rare pulmonary manifestation of Ehlers-Danlos syndrome
10. Existence of malfunctioning pro α2(I) collagen genes in a patient with a pro α2(I)-chain-defective variant of Ehlers-Danlos syndrome
11. Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms
12. The human collagen mutation database 1998
13. Epilepsy in Ehlers-Danlos syndrome
14. Headache in Ehlers-Danlos syndrome
15. Lung collagen in type IV Ehlers-Danlos syndrome: Ultrastructural and biochemical studies
16. 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
17. Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: Clinical features, biochemical screening, and molecular confirmation
18. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture
19. Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV
20. 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
21. A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV
22. A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV
23. Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis