Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the ends of each chromosome. The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. Here we show that disease anticipation is observed in families with this disease and that this is associated with progressive telomere shortening.
Vulliamy
Tom
T
Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, DuCane Rd, London W12 ONN, UK.
Marrone
Anna
A
Szydlo
Richard
R
Walne
Amanda
A
Mason
Philip J
PJ
Dokal
Inderjeet
I
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000175:diagnosis / Q000235:genetics*; D005190:Family; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012313:RNA / Q000235:genetics*; D017384:Sequence Deletion; D019098:Telomerase / Q000235:genetics*; D016615:Telomere / Q000235:genetics*
C422952:telomerase RNA; D012313:RNA; D019098:Telomerase