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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
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, Year 2023
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Description
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 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. © 2023 British Society for Haematology and John Wiley & Sons Ltd.
Authors & Co-Authors
Elbadry, Mahmoud I.
Egypt, Sohag
Sohag University
Tawfeek, Ahmed
Egypt, Sohag
Sohag University
El-Mokhtar, Mohamed Ahmed
Egypt, Asyut
Assiut University
Lebanon, Beirut
Lebanese American University
Kenawey, Mohamed Omar
Egypt, Sohag
Sohag University
United Kingdom, Manchester
Manchester University Nhs Foundation Trust
Ogawa, Seishi
Japan, Kyoto
Kyoto University
Sweden, Stockholm
Karolinska Institutet
Mughal, M. Z.
United Arab Emirates, Dubai
Al Jalila Children's Speciality Hospital
Statistics
Authors: 6
Affiliations: 8
Identifiers
Doi:
10.1111/bjh.19176
ISSN:
00071048
Research Areas
Cancer
Genetics And Genomics
Violence And Injury