Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.

ABSTRACT:

Background

PARN encodes poly(A)-specific ribonuclease, a 3 exoribonuclease important in regulating RNA stability and maturation. Rare germline PARN variants have been reported in telomere biology disorders (TBDs) leading to its inclusion on gene panels for bone marrow failure syndromes and pulmonary diseases.

Methods

To understand the extent of germline PARN variation in human disease, we conducted a comprehensive literature review, curated the TBD-associated PARN variants using AutoGVP and in silico prediction tools (MetaSVM, REVEL, and/or CADD) and assessed their frequency in the gnomAD database.

Results

Ninety-three unique PARN variants were identified in the literature as present in individuals or families affected by TBDs, but clinical features were not consisten

SUBMITTER: Nurelegne HT 

PROVIDER: S-EPMC12120517 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature