| H00507 | |
| H number | H00507 |
| Name | Dyskeratosis congenita |
| Description | 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. |
| Category | Ribosomopathy |
| Network | nt06506(H00507) Double-strand break repair nt06510 Telomere length regulation |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3A70.0 ICD-10: Q82.8 MeSH: D019871 OMIM: 305000 127550 613989 613990 615190 616553 224230 613987 613988 616353 620133 |
| Reference | PMID:18005359 AUTHORS Kirwan M, Dokal I TITLE Dyskeratosis congenita: a genetic disorder of many faces. JOURNAL Clin Genet 73:103-12 (2008) DOI:10.1111/j.1399-0004.2007.00923.x PMID:9590285 (DKCX) AUTHORS Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I TITLE X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. JOURNAL Nat Genet 19:32-8 (1998) DOI:10.1038/ng0598-32 PMID:11574891 (DKCA1) AUTHORS Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I TITLE The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. JOURNAL Nature 413:432-5 (2001) DOI:10.1038/35096585 PMID:18460650 (DKCA2) AUTHORS Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T TITLE Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. JOURNAL Haematologica 93:943-4 (2008) DOI:10.3324/haematol.12317 PMID:21477109 (DKCA3 DKCA5) AUTHORS Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA TITLE Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. JOURNAL Clin Genet 81:470-8 (2012) DOI:10.1111/j.1399-0004.2011.01658.x PMID:23329068 (DKCA4 DKCB5) AUTHORS Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA TITLE Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. JOURNAL Hum Genet 132:473-80 (2013) DOI:10.1007/s00439-013-1265-8 PMID:25205116 (DKCA6) AUTHORS 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 TITLE Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. JOURNAL Blood 124:2767-74 (2014) DOI:10.1182/blood-2014-08-596445 PMID:17507419 (DKCB1) AUTHORS Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I TITLE Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. JOURNAL Hum Mol Genet 16:1619-29 (2007) DOI:10.1093/hmg/ddm111 PMID:18523010 (DKCB2) AUTHORS Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I TITLE Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. JOURNAL Proc Natl Acad Sci U S A 105:8073-8 (2008) DOI:10.1073/pnas.0800042105 PMID:21205863 (DKCB3) AUTHORS Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE TITLE Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. JOURNAL Genes Dev 25:11-6 (2011) DOI:10.1101/gad.2006411 PMID:17785587 (DKCB4) AUTHORS Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I TITLE Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. JOURNAL Blood 110:4198-205 (2007) DOI:10.1182/blood-2006-12-062851 PMID:26342108 (DKCB6) AUTHORS 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 TITLE Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). JOURNAL J Med Genet 52:738-48 (2015) DOI:10.1136/jmedgenet-2015-103292 PMID:25233904 (DKCB7) AUTHORS 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 TITLE Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. JOURNAL Genes Dev 28:2090-102 (2014) DOI:10.1101/gad.248567.114 PMID:35007328 (DKCB8) AUTHORS 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 TITLE Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects. JOURNAL Blood 139:2427-2440 (2022) DOI:10.1182/blood.2021010791 |