Table 6.

TERT mutations in DCR families

Pattern of inheritanceNo. 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.