KEGG   DISEASE: Cockayne syndromeHelp
Entry
H00076                      Disease                                

Name
Cockayne syndrome
  Supergrp
Disorders of nucleotide excision repair [DS:H00403]
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. 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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00076  Cockayne syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2B  Syndromes with premature ageing appearance as a major feature
    H00076  Cockayne syndrome
BRITE hierarchy
Pathway
hsa03420 Nucleotide excision repair   
Gene
(CSA) ERCC8; Excision repair cross complementing, group 8 (mutation) [HSA:1161] [KO:K10570]
(CSB) ERCC6; Excision repair cross complementing, group 6 (mutation) [HSA:2074] [KO:K10841]
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
Reference
  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
Reference
  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
Reference
PMID:14639525 (CSB)
  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
Reference
PMID:9443879 (CSB)
  Authors
Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR
  Title
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
  Journal
Am J Hum Genet 62:77-85 (1998)
DOI:10.1086/301686
Reference
PMID:7664335 (CSA)
  Authors
Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC
  Title
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.
  Journal
Cell 82:555-64 (1995)
DOI:10.1016/0092-8674(95)90028-4

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