| Cerebro-oculo-facio-skeletal syndrome. | |
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MedLine Citation:
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PMID: 20687508 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and facial dysmorphism with prominent nasal root and/or overhanging upper lip. This syndrome is now recognized as a disorder belonging to the spectrum of inherited defects in Nucleotide Excision Repair (NER) resulting in profound photosensitivity. In COFS syndrome, as in Cockayne syndrome, DNA repair is impaired in the transcription-coupled NER pathway, but not in the global genome NER pathway. Fourteen cases so far described as COFS syndrome have been studied at the molecular levels. All mutations have been found in Cockayne syndrome gene, CSB, xeroderma pigmentosum genes, XPD and XPG and ERCC1 gene involved in the transcription-coupled NER pathway. |
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Authors:
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Hiroshi Suzumura; Osamu Arisaka |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Advances in experimental medicine and biology Volume: 685 ISSN: 0065-2598 ISO Abbreviation: Adv. Exp. Med. Biol. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-08-06 Completed Date: 2010-08-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0121103 Medline TA: Adv Exp Med Biol Country: United States |
Other Details:
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Languages: eng Pagination: 210-4 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi, Japan. suzumura@dokkyomed.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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enzymology,
genetics*,
pathology Animals Bone Diseases / enzymology, genetics*, pathology Brain Diseases / enzymology, genetics*, pathology DNA Helicases / genetics, metabolism DNA Repair / genetics DNA Repair Enzymes / genetics, metabolism DNA Repair-Deficiency Disorders / enzymology, genetics*, pathology DNA-Binding Proteins / genetics, metabolism Endonucleases / genetics, metabolism Eye Diseases, Hereditary / enzymology, genetics*, pathology Face / abnormalities* Humans Nuclear Proteins / genetics, metabolism Syndrome Transcription Factors / genetics, metabolism Transcription, Genetic / genetics Xeroderma Pigmentosum Group D Protein / genetics, metabolism |
| Chemical | |
Reg. No./Substance:
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0/DNA excision repair protein ERCC-5; 0/DNA-Binding Proteins; 0/Nuclear Proteins; 0/Transcription Factors; EC 3.1.-/ERCC1 protein, human; EC 3.1.-/Endonucleases; EC 3.6.1.-/DNA Helicases; EC 3.6.1.-/ERCC6 protein, human; EC 5.99.-/ERCC2 protein, human; EC 5.99.-/Xeroderma Pigmentosum Group D Protein; EC 6.5.1.-/DNA Repair Enzymes |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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