Table 1 Anagraphic and genetic data of the nine analyzed patients

Age, (y) mean ± SD

 At PM

30.0 ± 12.7

 At diagnosis

38.3 ± 13.4

 At TE

41 ± 12.0

Sex, male, no (%)

6 (66.6%)

Type of DKC (%)

Cryptic variant (100%)

Telomer length < 1st percentile, no (%)

 Lymphocytes

9 (100%)

 Granulocytes

9 (100%)

Affected gene mutation, no (%)

 TERC

5 (55.6%)

 TERT

4 (44.4%)

Gene variants

 TERC

n.54_57del

n. 73G > A

cn.107G > C

n.128A > G

n. 73 G > A

 TERT

c.2639C > T, [p.A880V]

c. 3257G > A, [p. R1086H]

c. 2059G > A, [p. R972H]

c.2147C > T, [p. A716V]

Additional organ involvement, no (%)

 Bone marrow

9 (100)

 Lung

6 (66.6)

 Liver^†

6 (66.6)

 Hair

5 (55.6)

 Others (nails, heart, endometrium, eye)

1 (12.5) each