Document Detail


Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene.
MedLine Citation:
PMID:  23181496     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Mitsuo Masuno; Atsushi Watanabe; Banyar Than Naing; Takashi Shimada; Wataru Fujimoto; Shinsuke Ninomiya; Yasunori Ueda; Kazushige Kadota; Tatsuya Kotaka; Eisei Kondo; Yasuko Yamanouchi; Mika Inoue; Kazunobu Ouchi; Yoshikazu Kuroki
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Publication Detail:
Type:  JOURNAL ARTICLE    
Journal Detail:
Title:  Congenital anomalies     Volume:  52     ISSN:  1741-4520     ISO Abbreviation:  Congenit Anom (Kyoto)     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9306292     Medline TA:  Congenit Anom (Kyoto)     Country:  -    
Other Details:
Languages:  ENG     Pagination:  207-210     Citation Subset:  -    
Copyright Information:
© 2011 The Authors. Congenital Anomalies © 2011 Japanese Teratology Society.
Affiliation:
Departments of Pediatrics Dermatology, Kawasaki Medical School, Kurashiki Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki Department of Biochemistry and Molecular Biology, Nippon Medical School, TokyoDepartments of Clinical Genetics Hematology Cardiology Psychiatry, Kurashiki Central Hospital, Kurashiki Department of Hematology and Oncology, Okayama University Hospital, Okayama, Japan.
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