Table 1.
Ribosomopathies, main mutated genes, main clinical features, current treatment and therapeutic perspectives.
| Name | OMIM | Mutations | Phenotype | Current Treatment | Therapeutic Perspectives | |
|---|---|---|---|---|---|---|
| Diamond–Blackfan anemia | 105650 | •RPS7 | •RPL10A | •Anemia | •Chronic transfusions | •Danazol |
| •RPS10 | •RPL11 | •Growth retardation | •Steroids | •L-leucine | ||
| •RPS17 | •RPL15 | •Other defects ~30–50% | or | •Sotatercept | ||
| •RPS19 | •RPL18 | •Craniofacial | • Hematopoietic Stem Cell Transplantation (HSCT) |
•Trifluoperazine | ||
| •RPS24 | •RPL19 | •Upper limb | •SMER28 | |||
| •RPS26 | •RPL26 | •Heart malformations | •Eltrombopag | |||
| •RPLP0 | •RPL34 | •Urinary system malformations | ||||
| •RPL3 | •RPL35 | |||||
| •RPL5 | •RPL35A | |||||
| •RPL9 | •TSR2 | |||||
| •RPL10 | ||||||
| X-linked dyskeratosis congenita | 305000 | •DKC1 | •Skin pigmentation | •Chronic transfusions | •Eltrombopag | |
| •Nail dystrophy | •HSCT | •Danazol | ||||
| •Leucoplakia | •Regular examinations in | |||||
| •Cytopenia | •Immunology | |||||
| •Other defect >30% | •Dermatology | |||||
| •Epiphora | •Neurology | |||||
| •Learning difficulties/mental retardation | •Ophthalmology | |||||
| •Pulmonary disease | •Otolaryngology | |||||
| •Hyperhidrosis | •Dental | |||||
| •Extensive dental carries/loss | •Cardiology | |||||
| •Short stature | •Pulmonary | |||||
| •Hair loss/grey hair or sparse eyelashes | ||||||
| •Esophageal stricture | ||||||
| •Hypogonadism/undescended testes | ||||||
| •Urethral stricture/phimosis | ||||||
| •Malignancy | ||||||
| •Liver cirrhosis/adenoma | ||||||
| •Abnormal bone trabeculation/osteoporosis | ||||||
| Treacher Collins syndrome | 154500 | •Defects of craniofacial development | •Reconstructive surgery | •MG132 or Bortezomib | ||
| •TCOF1 | •Conductive hearing loss | •Speech therapy | ||||
| •POLR1C | •Palpebral fissures’ lateral downward sloping | |||||
| •POLR1D | •Mandible hypoplasia | |||||
| •Cleft palate | ||||||
| Cartilage hair hypoplasia | 250250 | •RMRP | •Short stature | •Granulocyte Colony-Stimulating Factor (GCSF) |
•Recombinant growth hormone | |
| •Hypoplastic hair | •HSCT | •XAV939 | ||||
| •Ligamentous laxity | ||||||
| •Defective immunity | ||||||
| •Hypoplastic anemia | ||||||
| •Neuronal dysplasia of the intestine | ||||||
| Shwachman–Diamond syndrome | 260400 | •Neutropenia | •Chronic transfusions | •Transforming Growth Factor beta (TGF-β) |
||
| •SBDS | •Anemia | •Androgens | •Ataluren | |||
| •DNAJC21 | •Thrombocytopenia | •HSCT | ||||
| •EFL1 | •Bone marrow hypoplasia | •Reconstructive surgery | ||||
| •SRP54 | •Skeletal abnormalities | •Pancreatic enzymes | ||||
| •Pancreatic defects | •Vitamin supplements | |||||
| •Dietary advice and surveillance | ||||||
| 5q-syndrome | 153550 | •RPS14 | •Macrocytic anemia | •Red blood cell transfusions | •Cenersen | |
| •Erythroid hypoplasia | •Recombinant erythropoietin | •L-leucine | ||||
| •Hypolobated micromegakaryocytes | •Thalidomide | |||||
| •Retinoids | ||||||
| •Chemotherapy | ||||||
| •Hypomethylating agents | ||||||
| •Bone marrow transplantation | ||||||
| North American Indian | 604901 | •UTP4 | •Natal transient jaundice | •Liver transplantation | ||
| childhood cirrhosis | •Biliary cirrhosis | |||||
| •Portal hypertension | ||||||
| Isolated congenital asplenia | 271400 | •RPSA | •Absence of spleen | •Anti-infection and antibiotic prophylaxis | ||
| •Vaccination | ||||||
| •Pneumococcal | ||||||
| •Haemophilus influenzae type b | ||||||
| •Meningococcal | ||||||
| •Influenza | ||||||
| Neurodevelopmental disorders | •RPL10 | •POLR1A | •Neural tube defects | •Mental health medication | ||
| •RPS3 | •ERCC6 | •Microcephaly | •Speech therapy | |||
| •LAS1L | •CSB | •Autism | •Pediatrics | |||
| •SMN1 | •ERCC8 | •Schizophrenia | •Educational help | |||
| •EXOSC3 | •CSA | •Epilepsy | ||||
| •UBTF | •Cerebral palsy/periventricular leukomalacia | |||||
| Bowen–Conradi syndrome | 211180 | •EMG1 | •Psychomotor defects | |||
| •Growth retardation | ||||||
| •Microcephaly | ||||||
| •Micrognathia | ||||||
| •Congenital vertical talus | ||||||