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Article

Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders.

Genes & development - 19 Sept 2024

Kochman Rima, Ba Ibrahima, Yates Maïlyn, Pirabakaran Vithura, Gourmelon Florian, Churikov Dmitri, Laffaille Marc, Kermasson Laëtitia, Hamelin Coline, Marois Isabelle, Jourquin Frédéric, Braud Laura, Bechara Marianne, Lainey Elodie, Nunes Hilario, Breton Philippe, Penhouet Morgane, David Pierre, Géli Vincent, Lachaud Christophe, Maréchal Alexandre, Revy Patrick, Kannengiesser Caroline, Saintomé Carole, Coulon Stéphane

Abstract excerpt

Premature telomere shortening or telomere instability is associated with a group of rare and heterogeneous diseases collectively known as telomere biology disorders (TBDs). Here we identified two unrelated individuals with clinical manifestations of TBDs and short telomeres associated with the identical monoallelic variant c.767A>G; Y256C in RPA2 Although the replication protein A2 (RPA2) mutant did not affect...

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Identifiers

PMID: 39231615
DOI: 10.1101/gad.352032.124
PMCID: PMC11444173

Genes

RPA2
ATR
POT1
TERT

Variants

Provenance

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

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