Article
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.
European journal of human genetics : EJHG - 1 May 2025
Kvarnung Malin, Pettersson Maria, Chun-On Pattra, Rafati Maryam, McReynolds Lisa J, Norberg Anna, Moura Pedro Luis, Pesonen Ida, Chaireti Roza, Grönros Söderholm Boa, Burlin Julia, Rydén Jenny, Lindberg Eva Hellström, Giri Neelam, Savage Sharon A, Agarwal Suneet, Nordgren Ann, Tesi Bianca
Abstract excerpt
POLA2 encodes the accessory subunit of DNA polymerase α (polα)/primase, which is crucial for telomere C-strand fill-in. Incomplete fill-in of the C-rich telomeric strand after DNA replication has been proposed as a mechanism for Coats plus syndrome, a phenotype within the broader spectrum of telomere biology disorders (TBD). Coats plus syndrome has so far been associated with pathogenic variants in POT1, CTC1,...
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