Dyskeratosis congenita: telomerase, telomeres and anticipation.
作者： Anna Marrone , Amanda Walne , Inderjeet Dokal
DOI: 10.1016/J.GDE.2005.04.004
关键词: Genetics 、 Dyskeratosis congenita 、 Dyskerin 、 Anticipation (genetics) 、 Biology 、 Genetic heterogeneity 、 Telomerase RNA component 、 Telomerase 、 Bone marrow failure 、 Telomere
摘要: Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. The identification of dyskeratosis gene 1 (DKC1) mutations in X-linked recessive patients initially suggested DC defective pseudouridylation disorder. subsequent the telomerase RNA component (TERC) autosomal dominant together with discovery both TERC DKC1-encoded protein, dyskerin, are closely associated complex have pathophysiology predominantly relates to telomere maintenance. Recent discoveries shown exhibits disease anticipation this progressive shortening owing haplo-insufficiency TERC.
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