| H00076 | |
| H number | H00076 |
| Name | Cockayne syndrome |
| Description | Cockayne syndrome (CS) is a rare recessive disorder characterized by progressive multisystem abnormalities such as postnatal growth deficiency, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries and neurological degeneration. CS has thus been classified as a segmental premature-aging syndrome. Two complementation groups (CSA and CSB) have been identified so far in CS cases. CSA caused by mutation in the gene encoding the group 8 excision-repair cross-complementing protein (ERCC8) is early childhood onset in the second year of life. CSB caused by mutation in the ERCC6 gene is late childhood onset with mild symptoms. ERCC8 encodes a Walker domain (WD)-repeat protein involved in the transcription-coupled repair system of the actively transcribed DNA. ERCC6 protein is at the interface of transcription and DNA repair and is involved in transcription-coupled and global genome-DNA repair, as well as in general transcription. |
| Category | Neurodegenerative disease |
| Network | nt06502(H00076) Nucleotide excision repair |
| Gene | (CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB) ERCC6 [HSA:2074] [KO:K10841] (XPB/CS) ERCC3 [HSA:2071] [KO:K10843] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS) ERCC5 [HSA:2073] [KO:K10846] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Affected region: cerebral cortex, cerebellum, basal ganglia Microscopic lesion: accumulate of DNA lesions, tigroid-type demyelination, multifocal calcium deposition |
| Other DBs | ICD-11: LD2B ICD-10: Q87.1 MeSH: D003057 OMIM: 216400 133540 610651 278780 |
| Reference | PMID:17603927 AUTHORS Frosina G. TITLE The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. JOURNAL Free Radic Biol Med 43:165-77 (2007) DOI:10.1016/j.freeradbiomed.2007.04.001 PMID:17084038 (ERCC8) AUTHORS Kleppa L, Kanavin OJ, Klungland A, Stromme P TITLE A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. JOURNAL Neuroscience 145:1397-406 (2007) DOI:10.1016/j.neuroscience.2006.09.025 PMID:14639525 (ERCC6) AUTHORS Licht CL, Stevnsner T, Bohr VA TITLE Cockayne syndrome group B cellular and biochemical functions. JOURNAL Am J Hum Genet 73:1217-39 (2003) DOI:10.1086/380399 PMID:16947863 (ERCC3) AUTHORS Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH TITLE Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. JOURNAL Hum Mutat 27:1092-103 (2006) DOI:10.1002/humu.20392 PMID:23623389 (ERCC4) AUTHORS Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T TITLE Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. JOURNAL Am J Hum Genet 92:807-19 (2013) DOI:10.1016/j.ajhg.2013.04.007 PMID:8317483 (ERCC5) AUTHORS Vermeulen W, Jaeken J, Jaspers NG, Bootsma D, Hoeijmakers JH TITLE Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. JOURNAL Am J Hum Genet 53:185-92 (1993) |