| H00076 | |
| H番号 | H00076 |
| 名称 | コケイン症候群 |
| 概要 | 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. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | nt06502(H00076) Nucleotide excision repair |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Affected region: cerebral cortex, cerebellum, basal ganglia Microscopic lesion: accumulate of DNA lesions, tigroid-type demyelination, multifocal calcium deposition |
| リンク | ICD-11: LD2B ICD-10: Q87.1 MeSH: D003057 OMIM: 216400 133540 610651 278780 |
| 文献 | PMID:17603927 著者 Frosina G. タイトル The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. 雑誌 Free Radic Biol Med 43:165-77 (2007) DOI:10.1016/j.freeradbiomed.2007.04.001 PMID:17084038 (ERCC8) 著者 Kleppa L, Kanavin OJ, Klungland A, Stromme P タイトル A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. 雑誌 Neuroscience 145:1397-406 (2007) DOI:10.1016/j.neuroscience.2006.09.025 PMID:14639525 (ERCC6) 著者 Licht CL, Stevnsner T, Bohr VA タイトル Cockayne syndrome group B cellular and biochemical functions. 雑誌 Am J Hum Genet 73:1217-39 (2003) DOI:10.1086/380399 PMID:16947863 (ERCC3) 著者 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 タイトル Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 雑誌 Hum Mutat 27:1092-103 (2006) DOI:10.1002/humu.20392 PMID:23623389 (ERCC4) 著者 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 タイトル Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 雑誌 Am J Hum Genet 92:807-19 (2013) DOI:10.1016/j.ajhg.2013.04.007 PMID:8317483 (ERCC5) 著者 Vermeulen W, Jaeken J, Jaspers NG, Bootsma D, Hoeijmakers JH タイトル Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. 雑誌 Am J Hum Genet 53:185-92 (1993) |