| H00507 | |
| H番号 | H00507 |
| 名称 | 先天性角化異常症 |
| 概要 | Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while autosomal dominant and autosomal recessive forms have been reported. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology. Moreover, dyskeratosis congenita is linked to defective ribosome biogenesis. |
| カテゴリ | リボソーム病 |
| ネットワーク | nt06506(H00507) Double-strand break repair nt06510 Telomere length regulation |
| 病因遺伝子 | (DKCX) DKC1 [HSA:1736] [KO:K11131] (DKCA1) TERC [HSA:7012] [KO:K22183] (DKCA2/B4) TERT [HSA:7015] [KO:K11126] (DKCA3/A5) TINF2 [HSA:26277] [KO:K11112] (DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136] (DKCA6/B7) ACD [HSA:65057] [KO:K11114] (DKCB1) NOP10 [HSA:55505] [KO:K11130] (DKCB2) NHP2 [HSA:55651] [KO:K11129] (DKCB3) WRAP53 [HSA:55135] [KO:K23314] (DKCB6) PARN [HSA:5073] [KO:K01148] (DKCB8) DCLRE1B [HSA:64858] [KO:K15341] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A70.0 ICD-10: Q82.8 MeSH: D019871 OMIM: 305000 127550 613989 613990 615190 616553 224230 613987 613988 616353 620133 |
| 文献 | PMID:18005359 著者 Kirwan M, Dokal I タイトル Dyskeratosis congenita: a genetic disorder of many faces. 雑誌 Clin Genet 73:103-12 (2008) DOI:10.1111/j.1399-0004.2007.00923.x PMID:9590285 (DKCX) 著者 Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I タイトル X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. 雑誌 Nat Genet 19:32-8 (1998) DOI:10.1038/ng0598-32 PMID:11574891 (DKCA1) 著者 Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I タイトル The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 雑誌 Nature 413:432-5 (2001) DOI:10.1038/35096585 PMID:18460650 (DKCA2) 著者 Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T タイトル Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. 雑誌 Haematologica 93:943-4 (2008) DOI:10.3324/haematol.12317 PMID:21477109 (DKCA3 DKCA5) 著者 Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA タイトル Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. 雑誌 Clin Genet 81:470-8 (2012) DOI:10.1111/j.1399-0004.2011.01658.x PMID:23329068 (DKCA4 DKCB5) 著者 Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA タイトル Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 雑誌 Hum Genet 132:473-80 (2013) DOI:10.1007/s00439-013-1265-8 PMID:25205116 (DKCA6) 著者 Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM タイトル Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. 雑誌 Blood 124:2767-74 (2014) DOI:10.1182/blood-2014-08-596445 PMID:17507419 (DKCB1) 著者 Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I タイトル Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. 雑誌 Hum Mol Genet 16:1619-29 (2007) DOI:10.1093/hmg/ddm111 PMID:18523010 (DKCB2) 著者 Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I タイトル Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 雑誌 Proc Natl Acad Sci U S A 105:8073-8 (2008) DOI:10.1073/pnas.0800042105 PMID:21205863 (DKCB3) 著者 Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE タイトル Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 雑誌 Genes Dev 25:11-6 (2011) DOI:10.1101/gad.2006411 PMID:17785587 (DKCB4) 著者 Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I タイトル Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 雑誌 Blood 110:4198-205 (2007) DOI:10.1182/blood-2006-12-062851 PMID:26342108 (DKCB6) 著者 Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y タイトル Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). 雑誌 J Med Genet 52:738-48 (2015) DOI:10.1136/jmedgenet-2015-103292 PMID:25233904 (DKCB7) 著者 Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N, Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA タイトル Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 雑誌 Genes Dev 28:2090-102 (2014) DOI:10.1101/gad.248567.114 PMID:35007328 (DKCB8) 著者 Kermasson L, Churikov D, Awad A, Smoom R, Lainey E, Touzot F, Audebert-Bellanger S, Haro S, Roger L, Costa E, Mouf M, Bottero A, Oleastro M, Abdo C, de Villartay JP, Geli V, Tzfati Y, Callebaut I, Danielian S, Soares G, Kannengiesser C, Revy P タイトル Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects. 雑誌 Blood 139:2427-2440 (2022) DOI:10.1182/blood.2021010791 |