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Article

Clinical Actionability of the NUDT15 *4 (p.R139H) Allele and Its Association With Hispanic Ethnicity.

Clinical pharmacology and therapeutics - 1 Mar 2025

Maillard Maud, Nguyen Jenny Q, Yang Wenjian, Hoshitsuki Keito, Relling Mary V, Caudle Kelly E, Crews Kristine R, Jeha Sima, Inaba Hiroto, Pui Ching-Hon, Bhatia Smita, Karol Seth E, Antillon-Klussmann Federico G, Haidar Cyrine E, Bhojwani Deepa, Yang Jun J

Abstract excerpt

Nudix hydrolase 15 (NUDT15) deficiency is strongly associated with thiopurine-induced myelosuppression. Currently, testing for NUDT15 deficiency is based on the genotyping of the most frequent and clinically characterized no-function variants, that is, *2, *3 and *9. The Hispanic/Latino-predominant variant NUDT15 *4 (p.R139H) is classified as "uncertain function" by the Clinical Pharmacogenetics Implementation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39688234
DOI: 10.1002/cpt.3501
PMCID: PMC11995662

Genes

NUDT15

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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