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. Author manuscript; available in PMC: 2010 Jun 8.
Published in final edited form as: Br J Haematol. 2009 Feb 4;145(2):164–172. doi: 10.1111/j.1365-2141.2009.07598.x

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.

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