Table 1.

Genetic disorders linked to molecular defects in ribosomal biogenesis


Disease

Gene defect

Clinical features
X-linked dyskeratosis congenita  DKC1  Abnormal skin pigmentation, nail dystrophy, bone marrow failure, cancer, others  
Cartilage-hair hypoplasia  RMRP  Skeletal defects and short stature, hypoplastic anemia, lymphoma, others  
Diamond-Blackfan anemia  RPS19  Bone marrow failure, craniofacial abnormalities, cancer, others  
Shwachman-Diamond syndrome  SBDS  Bone marrow failure, pancreatic insufficiency, short stature, leukemia, others  
Treacher Collins syndrome
 
TCOF1
 
Craniofacial abnormalities
 

Disease

Gene defect

Clinical features
X-linked dyskeratosis congenita  DKC1  Abnormal skin pigmentation, nail dystrophy, bone marrow failure, cancer, others  
Cartilage-hair hypoplasia  RMRP  Skeletal defects and short stature, hypoplastic anemia, lymphoma, others  
Diamond-Blackfan anemia  RPS19  Bone marrow failure, craniofacial abnormalities, cancer, others  
Shwachman-Diamond syndrome  SBDS  Bone marrow failure, pancreatic insufficiency, short stature, leukemia, others  
Treacher Collins syndrome
 
TCOF1
 
Craniofacial abnormalities
 

Of this group, only Treacher Collins syndrome is not associated with bone marrow failure.

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