Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy

Abstract excerpt

Hoyeraal-Hreidarsson syndrome (HHS, OMIM 300240) is a severe clinical variant of X-linked dyskeratosis congenita (DC) (1,2). In the majority of patients, the disease is caused by mutations in the X-linked dyskeratosis congenita gene DKC1(3). Mutations within the same regions in the DKC1 gene can cause either the clinical phenotype of HHS or DC. DKC1 encodes for the nucleoprotein dyskerin, which is a cofactor of...

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