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Article

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

American journal of medical genetics. Part A - 1 Oct 2014

Lessel Davor, Saha Bidisha, Hisama Fuki, Kaymakamzade Bahar, Nurlu Gulay, Gursoy-Özdemir Yasemin, Thiele Holger, Nürnberg Peter, Martin George M, Kubisch Christian, Oshima Junko

Abstract excerpt

We describe a 28-year-old Turkish man with consanguineous parents who presented with an aged appearance with prematurely gray hair and scleroderma-like skin, spastic paraplegia, and apparent disability. The proband and each of his parents were heterozygous for a mutation in WRN, which could not explain his symptoms. Exome sequencing of the proband's blood DNA showed a homozygous c.626-1G > C mutation in intron 5...

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Source

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Identifiers

PMID: 24989684
DOI: 10.1002/ajmg.a.36664
PMCID: PMC4167236

Genes

SAMHD1
WRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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