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Article

A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder.

European journal of human genetics : EJHG - 1 May 2026

Simon Amos J, Neustadter-Blackman Monica, Lev Atar, Nayshool Omri, Kellerman Raizy, Glaser Fabian, Levy Shiran, Smoom Riham, Barel Ortal, Mandola Amarilla, Regev Miriam, Naor Shachar, Adam Etai, Tzfati Yehuda, Somech Raz

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41703052
DOI: 10.1038/s41431-026-02035-8
PMCID: PMC13171868

Genes

RPA2
BMF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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