Table I.
Mutations in the complexes associated with DC and related diseases.
Gene (protein) | Number of mutations seen |
Mutation type | Disease | Additional references |
---|---|---|---|---|
Telomerase | ||||
TERC | 32 | Heterozygous | AA, DC, ET, MDS PNH, PF | Du et al (2009) |
TERT (TERT) | 32 | Heterozygous Biallelic |
AA, AD-DC, HH, PF AR-DC, HH |
Du et al (2009) |
DKC1 (Dyskerin) | 54 | Hemizygous | X-linked DC, HH | |
NHP2 (NHP2) | 3 | Biallelic | AR-DC | |
NOP10 (NOP10) | 1 | Homozygous | AR-DC | |
Shelterin | ||||
TINF2 (TIN2) | 18 | Heterozygous | AA, AD-DC, HH, RS, S-DC | Walne et al (2008) |
From the telomerase database http://telomerase.asu.edu/diseases.html (Podlevsky et al, 2008) unless otherwise stated.
In the DCR (London) the approximate proportion of cases with each gene are DKC1 30%, TINF2 10-15%, TERC 5–10%, TERT 5%, NHP2 < 2%, NOP10 < 1% and uncharacterised 40–50%.
AA, aplastic anaemia; AD-DC, autosomal dominant dyskeratosis congenita; AR-DC, autosomal recessive dyskeratosis congenita; ET, essential thrombocythaemia; HH, Hoyeraal Hreidarsson syndrome; PF, pulmonary fibrosis; MDS, myelodysplastic syndrome; PNH, paroxysmal nocturnal haemoglobinurea; RS, Revesz syndrome; S-DC, sporadic dyskeratosis congenita.