Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam 2025 - Free CPHON Practice Questions and Study Guide

Dyskeratosis Congenita is characterized by genetic anomalies primarily associated with telomere biology, where telomerase insufficiency plays a critical role. This condition is often caused by mutations in genes involved in telomere maintenance, leading to a significant reduction in telomerase activity. Telomerase is the enzyme responsible for adding nucleotide sequences to the ends of telomeres, thereby maintaining their length and stability. When telomerase is insufficient, it results in progressive telomere shortening, which can lead to premature cellular aging, bone marrow failure, and increased susceptibility to certain cancers.

The other options reflect processes not typically seen in Dyskeratosis Congenita. For example, excessive telomere elongation would not occur because the fundamental issue is a lack of adequate telomerase activity. Enhanced ribosomal activity and decreased apoptosis are also not directly related to the hallmark features of Dyskeratosis Congenita, which centers around telomere dysfunction and its complications.