Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
- M. Pepin, U. Schwarze, A. Superti-Furga, P. Byers
- MedicineNew England Journal of Medicine
- 9 March 2000
Although most affected patients survive the first and second major complications, Ehlers-Danlos syndrome type IV results in premature death, and the diagnosis should be considered in young people who come to medical attention because of uterine rupture during pregnancy or arterial or visceral rupture.
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations
- V. Tran-Fadulu, H. Pannu, D. Milewicz
- MedicineJournal of Medical Genetics
- 18 June 2009
This study is the first to demonstrate clinical differences between patients with TGF BR1 and TGFBR2 mutations, important for the clinical management and outcome of vascular diseases in these patients.
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
- A. Colige, A. Sieron, B. Nusgens
- MedicineAmerican Journal of Human Genetics
- 1 August 1999
The mutations that cause Ehlers-Danlos syndrome type VIIC are identified in the six known affected human individuals and also in one strain of dermatosparactic calf and used bovine cDNA to isolate human pNPI.
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.
- U. Schwarze, W. Schievink, P. Byers
- BiologyAmerican Journal of Human Genetics
- 1 November 2001
Three frameshift mutations that lead to premature termination codons (PTCs) in exons 27, 6, and 9, respectively, and to allele-product instability are found, suggesting that the major effect of many of these dominant mutations in the "minor" collagen genes may be expressed through protein deficiency rather than through incorporation of structurally altered molecules into fibrils.
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.
A novel SHSF locus is reported suggested by a stillborn infant with ectrodactyly and other malformations who inherited an unbalanced translocation resulting in monosomy 4p15.1-4pter and trisomy for 10q25.
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.
- U. Schwarze, J. Goldstein, P. Byers
- BiologyAmerican Journal of Human Genetics
- 1 December 1997
The underrepresentation of splice acceptor-site mutations suggests that the favored consequence of 3' mutations is the use of an alternative acceptor site that creates a null allele with a premature-termination codon.
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).
- U. Schwarze, M. Atkinson, G. G. Hoffman, D. Greenspan, P. Byers
- BiologyAmerican Journal of Human Genetics
- 1 June 2000
Although as many as one-half of the mutations that give rise to EDS types I and II are likely to lie in the COL5A1 gene, a significant portion of them result in very low levels of mRNA from the mutant allele, as a consequence of nonsense-mediated mRNA decay.
Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.
It is found that endoplasmic reticulum localization only of a variant ATP7A protein is insufficient to effect normal copper transport, and this mutation results in the constitutive skipping of exon 10.
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
- E. A. Putnam, M. Cho, A. Zinn, J. Towbin, P. Byers, D. Milewicz
- Biology, MedicineAmerican journal of medical genetics
- 29 March 1996
The phenotype associated with mutations in exons 24-32 of the FBN1 gene is defined, information important for the development of possible diagnostic tests and genetic counseling.
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
- L. Smith, W. Wertelecki, P. Byers
- Biology, MedicineAmerican Journal of Human Genetics
- 1 August 1992
These findings distinguish dermatosparaxis from Ehlers-Danlos syndrome type VII, which results from substrate mutations that prevent proteolytic processing of type I procollagen molecules.
...
...