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. 2017 Mar 1;127(3):1117. doi: 10.1172/JCI92946

Biallelic inactivation of REV7 is associated with Fanconi anemia

Dominique Bluteau, Julien Masliah-Planchon, Connor Clairmont, Alix Rousseau, Raphael Ceccaldi, Catherine Dubois d’Enghien, Olivier Bluteau, Wendy Cuccuini, Stéphanie Gachet, Régis Peffault de Latour, Thierry Leblanc, Gérard Socié, André Baruchel, Dominique Stoppa-Lyonnet, Alan D D’Andrea, Jean Soulier
PMCID: PMC5330734  PMID: 28248207

Original citation: J Clin Invest. 2016;126(9):3580–3584. https://doi.org/10.1172/JCI88010

Citation for this corrigendum: J Clin Invest. 2017;127(3):1117. https://doi.org/10.1172/JCI92946

The nomenclature for the REV7 mutation was incorrectly noted in two sentences in the second paragraph of Results and Discussion and in Figure 1H. The correct sentences and figure part are below.

graphic file with name jci-127-92946-g001.jpg

Whole exome sequencing (WES) on genomic DNA from the EGF123 proband identified a homozygous REV7 variant, c.254T>A.

The c.254T>A REV7 is a variant based on a survey of publicly accessible variant databases.

In addition, the fourth sentence of the Abstract was incorrect. The correct sentence is below.

Patient-derived cells demonstrated an extended FA phenotype, which included increased chromosome breaks and G2/M accumulation upon exposure to DNA crosslinking agents, γH2AX and 53BP1 foci accumulation, and enhanced p53/p21 activation relative to cells derived from healthy subjects.

The authors regret the errors.

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