Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vascular type of Ehlers-Danlos syndrome (EDS) is the most severe type of EDS. It is an autosomal dominantly inherited disorder that results from mutations within the alpha1 type III collagen gene (COL3A1). We report a novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of EDS. Since the age of approximately 8 months, the patient had had repeated episodes of purpura and gradually developed thin, translucent skin. She had a past history of pneumothorax. At the initial examination, she was found to have the characteristic facies, i.e., bird-like face, of the vascular type of EDS, thinning of skin over the limbs and trunk, and scattered purpura. The blood vessels under the skin could be clearly visualized. She showed hypermobility of the small joints of all the four limbs and acrogeric changes of the hands and feet. Analysis of the amount of collagen synthesized from cultured dermal fibroblasts by SDS-polyacrylamide gel electrophoresis and fluorography was conducted based on the clinical suspicion of the vascular type of EDS, and a marked reduction in the synthesis of type III collagen was observed. Genetic analysis of the COL3A1 revealed a novel point mutation at the donor splice-site of intron 42, which resulted in the inclusion of 30 nucleotides into the mature mRNA of one allele.
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PMID:A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome. 1954 1

The patient was a 36-year-old woman. She had previously undergone surgery for hysteromyoma and endometriosis. At 8 week of pregnancy, the fetus's heart stopped beating, and the woman underwent abortion. On the same day, she began experiencing difficulty in breathing in the evening. After 4 days, she was referred to our hospital with dyspnea. Chest X-ray finding showed a right pneumothorax. Tube toracotomy was performed, and the right lung re-expanded immediately. Two months later, pneumothorax recurred without any association with the menstruation cycle. Thoracoscopic surgery was performed. No lesion was detected in the lung or visceral pleura, but a small hole and some thinned areas were noted in the diaphragm. Partial resection of the diaphragm was performed. Microscopic examination revealed endometriosis and localized lymphocyte infiltration in the resected diaphragm. It was suggested that the recurrence of pneumothorax without menstruation was caused by the thinning of the diaphragm due to endometriosis.
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PMID:[Diaphragmatic endometriosis-associated pneumothorax triggered by abortion; report of a case]. 2224 1