Ann Nordgren

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Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder - European Journal of Human Genetics

Nov 29, 2024 | nature.com | Lisa J. McReynolds |Pedro Moura |Sharon A. Savage |Ann Nordgren |Maryam Rafati

AbstractPOLA2 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, and STN1.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon - Nature Genetics

Oct 21, 2024 | nature.com | Ann Nordgren

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