Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation
Randomized trial examines classic dyskeratosis congenita outcomes in a female, suggesting significant genetic and biological implications.
Key Points
This research investigates the effects of a novel DKC1 variant in a female with dyskeratosis congenita, focusing on X chromosome inactivation and hematopoietic issues.
Case report of a female with classic dyskeratosis congenita and related symptoms.
Genetic analysis revealed a de novo DKC1 variant (c.190 G > C, p.Val64Leu).
Assessment of X chromosome inactivation patterns and gene expression in skin fibroblasts and bone marrow.
The identified DKC1 variant was linked to classic dyskeratosis congenita and expressed abnormally in skin and bone tissue.
Markedly skewed X chromosome inactivation was observed, favoring wild-type DKC1 expression in bone marrow.
The presence of trisomy 9 contributed to challenges in normal hematopoietic function.
Cite This Study
García-de-Teresa et al. (2026) studied this question.