Late-onset dyskeratosis congenita due to a TERC (n.269G > C) variant-first reported case from Indonesia: a case report - PubMed
3 hours ago
- #Case Report
- #TERC Mutation
- #Dyskeratosis Congenita
- First reported case of late-onset dyskeratosis congenita in Indonesia caused by a TERC (n.269G > C) mutation.
- A 32-year-old Indonesian male presented with anemia, thrombocytopenia, aplastic anemia, and premature aging features.
- Genetic testing confirmed shortened telomeres and a heterozygous TERC mutation shared with his mother.
- Patient developed avascular necrosis of both hips, requiring bilateral hip replacement.
- Early recognition of telomere disorders is crucial for management, especially in resource-limited settings.