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Article

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

PloS one - 1 Jan 2012

Bolze Alexandre, Abhyankar Avinash, Grant Audrey V, Patel Bhavi, Yadav Ruchi, Byun Minji, Caillez Daniel, Emile Jean-Francois, Pastor-Anglada Marçal, Abel Laurent, Puel Anne, Govindarajan Rajgopal, de Pontual Loic, Casanova Jean-Laurent

Abstract excerpt

We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous frameshift deletion in SLC29A3, which encodes human equilibrative nucleoside transporter-3 (hENT3). Germline mutations in SLC29A3 have been reported in rare patients with a wide range of...

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Identifiers

PMID: 22238637
DOI: 10.1371/journal.pone.0029708
PMCID: PMC3251605

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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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