Hoyeraal-Hreidarsson Syndrome Associated with a New Homozygous Splice Variant in PARN

We report a consanguineous Egyptian family, focusing on a 15-year-old girl exhibiting features of Hoyeraal-Hreidarsson syndrome (HHS). Genetic analysis revealed a novel new homozygous acceptor splice site variant in the PARN gene, causing significant telomere shortening. The report expands the genetic landscape of telomere biology disorders (TBDs).