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Article

Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant.

Journal of molecular medicine (Berlin, Germany) - 1 Mar 2021

Halas Agnieszka, Fijak-Moskal Jolanta, Kuberska Renata, Murcia Pienkowski Victor, Kaniak-Golik Aneta, Pollak Agnieszka, Poznanski Jarosław, Rydzanicz Malgorzata, Bik-Multanowski Mirosław, Sledziewska-Gojska Ewa, Płoski Rafał

Abstract excerpt

REV3L encodes a catalytic subunit of DNA polymerase zeta (Pol zeta) which is essential for the tolerance of DNA damage by inducing translesion synthesis (TLS). So far, the only Mendelian disease associated with REV3L was Moebius syndrome (3 patients with dominant REV3L mutations causing monoallelic loss-of-function were reported). We describe a homozygous ultra-rare REV3L variant (T2753R) identified with whole...

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PMID: 33474647
DOI: 10.1007/s00109-020-02033-3

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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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