Dyskeratosis congenita (DC)
Evidence-based neurology checklist on dyskeratosis congenita (dc): Genetic mutations X-linked recessive: DKC1 Autosomal dominant: TERC, TERT, RTEL1, TINF2 Autosomal recessive: TERT, RTEL1, CTC1, NOP10, NHP2, WRAP53, TPP1 Diagnostic features Pulmonary fibrosis Haematological features Vascular…
Genetic mutations
- X-linked recessive: DKC1
- Autosomal dominant: TERC, TERT, RTEL1, TINF2
- Autosomal recessive: TERT, RTEL1, CTC1, NOP10, NHP2, WRAP53, TPP1
Diagnostic features
Pulmonary fibrosis
Haematological features
Vascular malformations
Cancers
Stenoses
Hepatic features
Other features
References
- Niewisch MR, Savage SA. An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 2019; 12:1037-1052.
- Savage SA. Human telomeres and telomere biology disorders. Prog Mol Biol Transl Sci 2014; 125:41-66.
- Kocak H, Ballew BJ, Bisht K, et al. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. Genes Dev 2014; 28:2090-2102.
- Savage SA, Bertuch AA. The genetics and clinical manifestations of telomere biology disorders. Genet Med 2010; 12:753-764.
- Bertuch AA. The molecular genetics of the telomere biology disorders. RNA Biol 2016; 13:696-706.
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