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
Brite
Human diseases [BR:br08402]
Other congenital disorders
Ribosomopathies
H00507 Dyskeratosis congenita
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
3A70 Aplastic anaemia
H00507 Dyskeratosis congenita
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.
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).