[Clinical and genetic features of dyskeratosis congenital with bone marrow failure in eight patients]

To summary clinical and genetic features of childhood dyskeratosis congenital (DC) patients with bone marrow failure.

The clinical data of 8 DC patients with bone marrow failure diagnosed between September 2010 and September 2015 were collected. Whole exons with flanking regions of the 16 telomere-related genes, including DKC1, TERC, TERT, NOP10, NHP2, TINF2 and so on, were analyzed by next generation sequence.

Six males and two females were included, with a median age of 42(15-60) months. The median blood cell count at onset were as follow: WBC 3.99 (1.26-5.44) × 10(9)/L, ANC 1.11 (0.38-2.15) × 10(9)/L, RBC 2.45 (0.37-3.56) × 10(12)/L, HGB 82.5(15-127) g/L, PLT 27 (2-112) ×10(9)/L. Hypoplastic or marked hypoplastic bone marrow were seen in 6 patients. DKC1 mutiaton were indentified in 3 patients: one c.961C>A mutation, and two c.1058C>T mutation. TINF2 mutations were identified in 4 patients: c.849delC, c.844C>T, c.811C>T, c.862T>A combined c.871delA. One patient had TINF2 mutation c.848C>A combined TERT mutation c.1138C>T. DKC1 c.961C>A mutation, TINF2 c.849delC mutation and TINF2 c.871delA mutaion were not reported so far. 5 of 7 patients got better after androgen administration. During follow-up, one patient died of serious infection, the other seven patients continued the treatment.

TINF2 and DKC1 mutations were the main genetic phenotypes in childhood DC with marrow failure patients. Androgen is effetive in some cases.