Article
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.
British journal of haematology - 1 Mar 2024
Elbadry Mahmoud I, Tawfeek Ahmed, Hirano Tomonori, El-Mokhtar Mohamed A, Kenawey Mohamed, Helmy Ahmed M, Ogawa Seishi, Mughal M Zulf, Nannya Yasuhito
Abstract excerpt
By whole exome sequencing, we identified a homozygous c.2086 C→T (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...
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