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Article

De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.

American journal of medical genetics. Part A - 1 Sept 2025

Braun Dominique, Gregor Anne, Haubitz Monika, Baerlocher Gabriela M, Kraus Cornelia, Rieubland Claudine, Zweier Christiane

Abstract excerpt

The dyskerin encoding gene DKC1 plays an important role in telomerase activity and telomere maintenance. Pathogenic variants in DKC1 cause an X-linked multiorgan disease called dyskeratosis congenita (DC), the most severe form of which is Hoyeraal-Hreidarsson syndrome (HHS). HHS due to DKC1 variants has so far only been reported in hemizygous males and is associated with severe neurological impairment and...

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Identifiers

PMID: 40265669
DOI: 10.1002/ajmg.a.64097

Genes

DKC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.PMID 40265669Read ↗

A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndromeSemantic proximity Read ↗

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case reportSemantic proximity Read ↗

An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.Semantic proximity Read ↗

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.Semantic proximity Read ↗

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.Semantic proximity Read ↗

Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early InfancySemantic proximity Read ↗

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.Semantic proximity Read ↗

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.Semantic proximity Read ↗

Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita.Semantic proximity Read ↗

Identification of a novel mutation in DKC1 in dyskeratosis congenita.Semantic proximity Read ↗

DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndromeSemantic proximity Read ↗

A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis CongenitaSemantic proximity Read ↗

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