dyskeratosis congenita, autosomal dominant, type 3

(redirected from autosomal dominant dyskeratosis type 3)

dyskeratosis congenita, autosomal dominant, type 3

A rare multisystem disorder (OMIM:613990) caused by defective telomere maintenance, which is characterised by progressive bone marrow failure and a clinical triad of reticulated skin hyperpigmentation, nail dystrophy and mucosal leukoplakia. It is variably accompanied by premature greying, aplastic anaemia, low platelets, osteoporosis, pulmonary fibrosis and liver fibrosis. Early death is due to bone marrow failure, infections, fatal pulmonary complications or cancer.

Molecular pathology
Caused by defects of TINF2, which encodes a protein of the shelterin complex that protects telomeres from being shortened by DNA repair.
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