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Article

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.

American journal of human genetics - 6 Feb 2014

Tummala Hemanth, Kirwan Michael, Walne Amanda J, Hossain Upal, Jackson Nicholas, Pondarre Corinne, Plagnol Vincent, Vulliamy Tom, Dokal Inderjeet

Abstract excerpt

Exome sequencing was performed in three index cases with bone marrow failure and neurological dysfunction and whose parents are first-degree cousins. Homozygous truncating mutations were identified in ERCC6L2 in two of the individuals. Both of these mutations affect the subcellular localization and stability of ERCC6L2. We show here that knockdown of ERCC6L2 in human A549 cells significantly reduced their...

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Identifiers

PMID: 24507776
DOI: 10.1016/j.ajhg.2014.01.007
PMCID: PMC3928664

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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