de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.

ABSTRACT: Dyskeratosis congenita (DC) is a clinically and genetically heterogeneous, multisystem inherited syndrome with a very high risk for bone marrow failure (BMF) and cancer predisposition. The classical clinical form of DC is characterized by abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. Bone marrow failure is considered to be an important and major complication of DC and the leading cause of death which develops in around 85% of cases. A number of genes involved in telomere maintenance are associated with DC, such as genes that encode the components of the telomerase complex (TERT, DKC1, TERC, NOP10, and NHP2), T-loop assembly protein (RTEL1), telomere capping (CTC1), telomere shelterin complex (TINF2), and telomerase

SUBMITTER: Kocheva SA 

PROVIDER: S-EPMC9524180 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature