A rare homozygous variant in TERT gene causing variable bone marrow failure, fragility fractures, rib anomalies and extremely short telomere lengths with high serum IgE.
Br J Haematol
; 204(3): 1086-1095, 2024 Mar.
Article
in En
| MEDLINE
| ID: mdl-37926112
ABSTRACT
By whole exome sequencing, we identified a homozygous c.2086 CâT (p.R696C) TERT mutation in patients who present with a spectrum of variable bone marrow failure (BMF), raccoon eyes, dystrophic nails, rib anomalies, fragility fractures (FFs), high IgE level, extremely short telomere lengths (TLs), and skewed numbers of cytotoxic T cells with B and NK cytopenia. Haploinsufficiency in the other family members resulted in short TL and osteopenia. These patients also had the lowest bone mineral density Z-score compared to other BMF-patients. Danazol/zoledronic acid improved the outcomes of BMF and FFs. This causative TERT variant has been observed in one family afflicted with dyskeratosis congenita (DC), and thus, we also define a second report and new phenotype related to the variant which should be suspected in severe cases of DC with co-existent BMF, FFs, high IgE level and rib anomalies.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Pancytopenia
/
Rib Fractures
/
Telomerase
/
Dyskeratosis Congenita
Limits:
Humans
Language:
En
Journal:
Br J Haematol
Year:
2024
Type:
Article
Affiliation country:
Egypt