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POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

Human mutation - 1 Nov 2015

Lessel Davor, Hisama Fuki M, Szakszon Katalin, Saha Bidisha, Sanjuanelo Alexander Barrios, Salbert Bonnie A, Steele Pamela D, Baldwin Jennifer, Brown W Ted, Piussan Charles, Plauchu Henri, Szilvássy Judit, Horkay Edit, Högel Josef, Martin George M, Herr Alan J, Oshima Junko, Kubisch Christian

Abstract excerpt

Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ. A prototypic example is the Werner syndrome (WS), caused by biallelic germline mutations in the Werner helicase gene (WRN). While heterozygous lamin A/C (LMNA) mutations are found in a few nonclassical cases of WS, another 10%-15% of patients initially diagnosed with...

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Identifiers

PMID: 26172944
DOI: 10.1002/humu.22833
PMCID: PMC4684254

Genes

POLD1
LMNA
WRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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