Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene
Abstract
We report a 34‐year‐old Japanese female with the vascular type of Ehlers‐Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic dysfunction. Magnetic resonance angiography showed tortuous vertebral and basilar arteries, mild left carotid canal bulging, and right anterior tibial artery hypoplasia. Electron microscopic examinations of a skin biopsy revealed extremely dilated rough endoplasmic reticulum in dermal fibroblasts and wide variability of individual collagen fibril diameters. A molecular analysis using a conventional total RNA method and a high‐resolution melting curve analysis using genomic DNA revealed a novel missense mutation within exon 48 of the COL3A1 gene, c.3428G>A, leading to p.Gly1143Glu.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The paper's molecular findings support that disturbance of ER-related homeostasis is associated with the disease mechanism as a result of abnormal protein folding with ensuing intracellular retention of mutant COLLIII chains and ER dilation.
“Overall our molecular findings may provide further support to early evidences suggesting that the disturbance of ER related homeostasis could be likely associated with the disease mechanism as a result of abnormal protein folding with ensuing intracellular retention of mutant COLLIII chains and ER dilation [8,53–55]”
Cites
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
Pepin, M., Schwarze, U., Superti-Furga, A., & Byers, P. H. (2000) · New England Journal of Medicine · doi:10.1056/nejm200003093421001 · Cited by 1,344 · see citing works
Oderich, G. S., Panneton, J. M., Bower, T. C., Lindor, N. M., Cherry, K. J., Noel, A. A., Kalra, M., Sullivan, T. M., & Gloviczki, P. (2005) · Journal of Vascular Surgery · doi:10.1016/j.jvs.2005.03.053 · Cited by 430 · see citing works
Ong, K.-T., Perdu, J., Backer, J. F. A. D., Bozec, E., Collignon, P., Emmerich, J., Fauret‐Amsellem, A., Fiessinger, J., Germain, D. P., Georgesco, G., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60960-9 · Cited by 402 · see citing works
Leistritz, D. F., Pepin, M. G., Schwarze, U., & Byers, P. H. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182180c89 · Cited by 141 · see citing works
Persikov, A. V., Pillitteri, R. J., Amin, P., Schwarze, U., Byers, P. H., & Brodsky, B. (2004) · Human Mutation · doi:10.1002/humu.20091 · Cited by 106 · see citing works
Smith, L. T., Schwarze, U., Goldstein, J., & Byers, P. H. (1997) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12286441 · Cited by 99 · see citing works
The Vascular Type of Ehlers-Danlos Syndrome
Watanabe, A., & Shimada, T. (2008) · Journal of Nippon Medical School · doi:10.1272/jnms.75.254 · Cited by 52 · see citing works
Self-citationGenetic Aspects of the Vascular Type of Ehlers-Danlos Syndrome (vEDS, EDSIV) in Japan
Watanabe, A., Kosho, T., Wada, T., Sakai, N., Fujimoto, M., Fukushima, Y., & Shimada, T. (2007) · Circulation Journal · doi:10.1253/circj.71.261 · Cited by 39 · see citing works
Self-citationClinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome
嶋岡, 弥., Kosho, T., Wataya‐Kaneda, M., Funakoshi, M., Suzuki, T., Hayashi, S., Mitsuhashi, Y., Isei, T., Aoki, Y., Yamazaki, K., et al. (2010) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2010.09874.x · Cited by 31 · see citing works
日本におけるEhlers-Danlos症候群の血管型(vEDS,EDSIV)の遺伝的性質
Atsushi, W., Tomoki, K., Takahiro, W., et al. (2007) · Circulation · Cited by 22 · see citing works
Naing, B. T., Watanabe, A., & Shimada, T. (2011) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2011.01.011 · Cited by 9 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Chiarelli, N., Carini, G., Zoppi, N., Ritelli, M., & Colombi, M. (2018) · PLOS ONE · doi:10.1371/journal.pone.0191220 · Cited by 45 · see citing works
- Authors
- Masuno, M., Watanabe, A., Naing, B. T., Shimada, T., Fujimoto, W., Ninomiya, S., Ueda, Y., Kadota, K., Kotaka, T., Kondo, E., Yamanouchi, Y., Inoue, M., Ouchi, K., & Kuroki, Y.
- Affiliations
- Kawasaki Medical School (JP)
- Nippon Medical School (JP)
- Kurashiki Central Hospital (JP)
- Okayama University Hospital (JP)
- Kawasaki University of Medical Welfare (JP)
- Corresponding author
- Masuno, Mitsuo
- ORCID
- Venue
- Congenital Anomalies
- Publisher
- Wiley
- Published
- 2012-11-26
- Volume
- 52
- Issue
- 4
- Pages
- 207-210
- ISSN
- 0914-3505 (ISSN-L)
- 1741-4520
- OpenAlex
- W1869789416
- Cited by
- 3
- References
- 11
- Citations by year
- 2018: 1 · 2016: 1 · 2014: 1
- FWCI
- 0.20
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Congenital Anomalies (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Kawasaki Medical School
- Japan Society for the Promotion of Science (22390212)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- vascular Ehlers-Danlos syndrome, COL3A1, missense mutations, type III collagen, collagen fibril diameter, rough endoplasmic reticulum dilation, dermal fibroblasts, varicose veins, tortuous arteries, autonomic dysfunction, high-resolution melting analysis, novel mutations
- MeSH terms
- Adult, Amino Acid Sequence, Base Sequence, Cerebral Angiography, Ehlers-Danlos Syndrome, Exons, Female, Humans, Molecular Sequence Data, Skin, Magnetic Resonance Angiography, Mutation, Missense, Collagen Type III
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
