Chapter

Diseases of DNA Repair

Volume 685 of the series Advances in Experimental Medicine and Biology pp 210-214

Cerebro-Oculo-Facio-Skeletal Syndrome

  • Hiroshi SuzumuraAffiliated withDepartment of Pediatrics, Dokkyo Medical University Email author 
  • , Osamu ArisakaAffiliated withDepartment of Pediatrics, Dokkyo Medical University

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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 p