Table 1.

Patterns of inheritance and the mutation profile in DC

Pattern of inheritanceDKC1 mutated*TERC mutatedNo mutation identifiedTotal
X-linked 21 (4) 0 (0) 1 (1) 22 (5)
Two affected male siblings 11 (3) 1 (0) 7 (1) 19 (4)
Sporadic affected male 40 (8) 3 (0) 80 (15) 123 (23)
Autosomal dominant 0 (0) 7 (0) 4 (0) 11 (0)
Autosomal recessive 0 (0) 0 (0) 18 (9) 18 (9)
Sporadic affected female 0 (0) 0 (0) 35 (7) 35 (7)
All 72 (15) 11 (0) 144 (33) 228 (48)
  • Numbers in parentheses refer to the number of families in each category with HH.

  • * All families with only affected males have been screened for DKC1 mutation; of the families with affected females, 27 have been screened for DKC1 mutation, and all of those are negative.

  • All families have been screened for TERC mutation.

  • Includes 2 families in which both parents are asymptomatic and that were initially thought to show autosomal recessive inheritance but are now known to have autosomal dominant DC due to TERC mutations.