Dyskeratosis congenita

Definition:

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.

References:

[1]. Anna Marrone, et al. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007 Dec 15;110(13):4198-205. [Content Brief]

[2]. Bari J Ballew, et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum Genet. 2013 Apr;132(4):473-80. [Content Brief]

[3]. Christian Trahan, et al. Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. Hum Mol Genet. 2010 Mar 1;19(5):825-36. [Content Brief]

[4]. Franklin Zhong, et al. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev. 2011 Jan 1;25(1):11-6. [Content Brief]

[5]. G S Sasa, et al. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012 May;81(5):470-8. [Content Brief]

[6]. Lina Basel-Vanagaite, et al. Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. Haematologica. 2008 Jun;93(6):943-4. [Content Brief]

[7]. M Kirwan, et al. Dyskeratosis congenita: a genetic disorder of many faces. Clin Genet. 2008 Feb;73(2):103-12. [Content Brief]

[8]. Santhosh Dhanraj, et al. Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). J Med Genet. 2015 Nov;52(11):738-48. [Content Brief]

[9]. Yiran Guo, et al. Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood. 2014 Oct 30;124(18):2767-74. [Content Brief]

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