TERT mutations in DCR families
Pattern of inheritance . | No. of subjects screened* . | Amino acid substitutions†(n) . | Novel synonymous and intronic sequence changes‡(n) . |
|---|---|---|---|
| Sporadic affected male | 26 | A279T (5) | 1849C>T (2) |
| IVS8 nt-88 G>A (1) | |||
| IVS10 nt-10 T>C (1) | |||
| IVS12 nt-10 G>T (1) | |||
| Autosomal dominant | 4 | None | None |
| Autosomal recessive | 17 | F1127L (1) | None |
| P721R (1) | |||
| Sporadic affected female | 27 | A279T (2) | IVS10 nt-63C>T (1) |
| IVS12 nt 74 C>T (1) | |||
| IVS12 nt 79insCG (1) |
Pattern of inheritance . | No. of subjects screened* . | Amino acid substitutions†(n) . | Novel synonymous and intronic sequence changes‡(n) . |
|---|---|---|---|
| Sporadic affected male | 26 | A279T (5) | 1849C>T (2) |
| IVS8 nt-88 G>A (1) | |||
| IVS10 nt-10 T>C (1) | |||
| IVS12 nt-10 G>T (1) | |||
| Autosomal dominant | 4 | None | None |
| Autosomal recessive | 17 | F1127L (1) | None |
| P721R (1) | |||
| Sporadic affected female | 27 | A279T (2) | IVS10 nt-63C>T (1) |
| IVS12 nt 74 C>T (1) | |||
| IVS12 nt 79insCG (1) |
“n” indicates is the number of times each mutation has been observed in this series of 74 patients; and ins, insertion.
TERT screening of 24 of these subjects has been reported previously.
The A279T substitution has previously been shown to be polymorphic; the F1127L substitution has also been described previously; the P721R substitution is described in this paper.
Previously published synonymous and intronic sequence changes are not included.