先天性角化不良
骨髓衰竭
端粒
细胞减少
单倍率不足
外显子组测序
医学
骨量减少
表型
骨髓
免疫学
内科学
生物
造血
骨矿物
遗传学
基因
骨质疏松症
干细胞
作者
Mahmoud El-Badry,Ahmed R Tawfeek,Tomonori Hirano,Mohamed A. El‐Mokhtar,Mohamed Kenawey,Ahmed M. Helmy,Seishi Ogawa,Zulf Mughal,Yasuhito Nannya
摘要
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.
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