KEGG   DISEASE: Cockayne syndrome
Entry
H00076                      Disease                                
Name
Cockayne syndrome
  Subgroup
Xeroderma pigmentosum/ 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. 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
Brite
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
Pathway-based classification of diseases [BR:br08402]
 Replication, repair and transcription
  nt06502  Nucleotide excision repair
   H00076  Cockayne syndrome
  nt06508  Interstrand crosslink repair
   H00076  Cockayne syndrome
Pathway
hsa03420  Nucleotide excision repair
Network
nt06502 Nucleotide excision repair
nt06508 Interstrand crosslink 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]
Comment
Some patients have the xeroderma pigmentosum (XP)/CS complex. [DS:H01428]
Other DBs
ICD-11: LD2B
MeSH: D003057
OMIM: 216400 133540
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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)

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