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Article

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

Human molecular genetics - 15 Aug 2013

Le Guen Tangui, Jullien Laurent, Touzot Fabien, Schertzer Michael, Gaillard Laetitia, Perderiset Mylène, Carpentier Wassila, Nitschke Patrick, Picard Capucine, Couillault Gérard, Soulier Jean, Fischer Alain, Callebaut Isabelle, Jabado Nada, Londono-Vallejo Arturo, de Villartay Jean-Pierre, Revy Patrick

Abstract excerpt

Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and developmental defects. Several factors involved in telomere length maintenance and/or protection are defective in HHS/DC, underlining the relationship between telomere dysfunction and these diseases. By combining whole-genome linkage analysis and exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23591994
DOI: 10.1093/hmg/ddt178

Genes

RTEL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.PMID 23591994Read ↗

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.Semantic proximity Read ↗

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.Semantic proximity Read ↗

Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.Semantic proximity Read ↗

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.Semantic proximity Read ↗

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.Semantic proximity Read ↗

[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].Semantic proximity Read ↗

Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.Semantic proximity Read ↗

Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomeraseSemantic proximity Read ↗

RTEL1: functions of a disease-associated helicase.Semantic proximity Read ↗

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.Semantic proximity Read ↗

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenitaSemantic proximity Read ↗

Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.Semantic proximity Read ↗

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