What is the genetic basis for Dyskeratosis Congenita?

Prepare for the Certified Pediatric Hematology Oncology Nurse Exam with comprehensive quiz options. Utilize multiple choice questions, flashcards, and detailed explanations to enhance your studying and ensure success.

Dyskeratosis congenita is a rare genetic disorder characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia, often accompanied by severe bone marrow failure and increased cancer risk. The underlying genetic cause of dyskeratosis congenita is primarily linked to mutations in the DKC1 gene, which encodes a protein involved in the maintenance of telomeres.

The DKC1 gene is located on the X chromosome and plays a crucial role in the function of telomerase, an enzyme that helps maintain the length of telomeres. Telomeres are protective caps at the ends of chromosomes that prevent them from deteriorating or fusing with other chromosomes. In patients with dyskeratosis congenita, dysfunctional telomeres lead to premature cellular senescence and apoptosis, resulting in the clinical features associated with the disorder.

While other options mention genes and conditions related to cancer and hematopoietic stem cells, none of them directly correlate with the specific genetic cause of dyskeratosis congenita. BRCA1 mutations are primarily associated with breast and ovarian cancers, TP53 mutations are linked to a variety of cancers and play a role in the cell cycle, and a deficiency in hematopoietic stem cells

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