| Chapter title |
Cerebro-oculo-facio-skeletal syndrome.
|
|---|---|
| Chapter number | 19 |
| Book title |
Diseases of DNA Repair
|
| Published in |
Advances in experimental medicine and biology, December 2009
|
| DOI | 10.1007/978-1-4419-6448-9_19 |
| Pubmed ID | |
| Book ISBNs |
978-1-4419-6447-2, 978-1-4419-6448-9
|
| Authors |
Suzumura H, Arisaka O, Hiroshi Suzumura, Osamu Arisaka, Suzumura, Hiroshi, Arisaka, Osamu |
| 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. |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 20 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 3 | 15% |
| Researcher | 2 | 10% |
| Student > Doctoral Student | 1 | 5% |
| Student > Master | 1 | 5% |
| Unknown | 13 | 65% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 15% |
| Biochemistry, Genetics and Molecular Biology | 2 | 10% |
| Chemistry | 1 | 5% |
| Computer Science | 1 | 5% |
| Unknown | 13 | 65% |