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
en 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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Pancitopenia
/
Fracturas de las Costillas
/
Telomerasa
/
Disqueratosis Congénita
Límite:
Humans
Idioma:
En
Revista:
Br J Haematol
Año:
2024
Tipo del documento:
Article
País de afiliación:
Egipto