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. Author manuscript; available in PMC: 2021 Aug 19.
Published in final edited form as: Stem Cell Res. 2019 Aug 20;40:101540. doi: 10.1016/j.scr.2019.101540

Table 1.

Patient’s clinical characteristics.

Patient (mutation) Clinical manifestation Family history
3 years old, male DKC1 c.1058 C>T, p.A353V

  • Recurrent pneumonia, leukoplakia of the tongue, nail dystrophy, cerebellar hypoplasia, auricular hyperpigmentation;

  • Pancytopenia, hypocellular bone marrow and consistent aplastic anemia;

  • Short telomeres (<10th percentile): 7 kb in the lymphocytes.

 None (mother clinically healthy and wild-type for the DKC1 mutation)