Patterns of inheritance and the mutation profile in DC
Pattern of inheritance . | DKC1 mutated* . | TERC mutated† . | No mutation identified . | Total . |
|---|---|---|---|---|
| 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) |
Pattern of inheritance . | DKC1 mutated* . | TERC mutated† . | No mutation identified . | Total . |
|---|---|---|---|---|
| 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.