title: Cerebro-oculo-facio-skeletal syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi, Japan. suzumura@dokkyomed.ac.jp
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Suzumura
authors.forename: Osamu
authors.initials: O
authors.lastname: Arisaka
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D000818:Animals; D001847:Bone Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D001927:Brain Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004265:DNA Helicases / Q000235:genetics / Q000378:metabolism; D004260:DNA Repair / Q000235:genetics; D045643:DNA Repair Enzymes / Q000235:genetics / Q000378:metabolism; D049914:DNA Repair-Deficiency Disorders / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D004720:Endonucleases / Q000235:genetics / Q000378:metabolism; D015785:Eye Diseases, Hereditary / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D000075223:Poly-ADP-Ribose Binding Proteins; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D014158:Transcription, Genetic / Q000235:genetics; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics / Q000378:metabolism; D000099250:DNA Excision Repair Protein ERCC-5
chemical_list: D004265:DNA Helicases; D045643:DNA Repair Enzymes; D004268:DNA-Binding Proteins; D004720:Endonucleases; D009687:Nuclear Proteins; D000075223:Poly-ADP-Ribose Binding Proteins; D014157:Transcription Factors; D051759:Xeroderma Pigmentosum Group D Protein; D000099250:DNA Excision Repair Protein ERCC-5; C071447:ERCC1 protein, human; C078673:ERCC6 protein, human; C497292:ERCC2 protein, human