Telomerase mutations in dyskeratosis congenita

The cartoon shows proteins involved in telomerase function. Pathogenic variants in the genes that encode many of these proteins have been implicated in DC and other telomere biology disorders. Proteins shown but not yet reported to have a disease association are TRF1, TRF2, RAP1, TEN1, and GAR1. Refer to discussions of DC in UpToDate for additional information.

DC: dyskeratosis congenita; TCAB1: telomere Cajal body associated protein 1 (gene: WRAP53); TIN2: TRF1-interacting nuclear factor 2 (gene: TINF2); NOP10: NOP10 ribonucleoprotein (gene: NOP10); NHP2: non-histone protein 2, also called nucleolar protein family A, member 2 (NOLA2; gene: NHP2/NOLA2); DKC1: dyskerin (gene: DKC1); TERC: telomerase RNA component (gene: TERC); TERT: telomerase reverse transcriptase (gene: TERT); RTEL1: regulator of telomere elongation helicase 1 (gene: RTEL1); POT1: protection of telomeres 1 (gene: POT1); TPP1: telomere protection protein 1 (gene: ACD); CTC1: CTS telomere maintenance complex component 1 (gene: CTC1); STN1: oligonucleotide/oligosaccharide binding fold containing 1 (gene: OBFC1); NAF1: nuclear assembly factor 1 ribonucleoprotein (gene: NAF1); PARN: poly(A)-specific ribonuclease (gene: PARN); TRF1: telomeric repeat-binding factor 1 (gene: TERF1); TRF2: telomeric repeat-binding factor 2 (gene: TERF2); RAP1: repressor/activator site binding protein, also called TERF2-interacting protein (TERF2IP; gene: TERF2IP); TEN1: telomeric pathways with STN1 (gene: TEN1); GAR1: glycine-arginine-rich, also called nucleolar protein family A, member 1 (NOLA1; gene: GAR1/NOLA1).

Reproduced from: Wegman-Ostrosky T, Savage SA. The genomics of inherited bone marrow failure: from mechanism to the clinic. Br J Haematol 2017. DOI: 10.1111/bjh.14535. Figure originally published in a U.S. Government work in the public domain in the United States.

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Telomerase mutations in dyskeratosis congenita