Shachar Naor on Muck Rack

Shachar Naor

As seen in: Nature
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A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder - European Journal of Human Genetics

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By Amos Simon, Monica Neustadter-Blackman, Atar Lev, Omri Nayshool, Raizy Kellerman, Fabian Glaser, Shiran Levy, Riham Smoom, Ortal Barel, Amarilla B. Mandola, Miriam Regev, Shachar Naor, Etai Adam, Yehuda Tzfati, Raz Somech
| Nature
Abstract Telomere biology disorders (TBDs) are characterized by bone marrow failure (BMF) and dysfunctional telomeres. So far, inherited mutations in 18 genes have been identified in TBDs. Here, we describe a child presenting with early BMF, immunodeficiency, and severely short and defective telomeres, carrying a homozygous splicing mutation (c.409-2 A > G; p.Q136_K138del) in RPA2 – a known replication factor and telomerase accessory factor.
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