Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

doi:10.1084/jem.20151618

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Article

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

The Journal of experimental medicine - 25 Jul 2016

Simon Amos J, Lev Atar, Zhang Yong, Weiss Batia, Rylova Anna, Eyal Eran, Kol Nitzan, Barel Ortal, Cesarkas Keren, Soudack Michalle, Greenberg-Kushnir Noa, Rhodes Michele, Wiest David L, Schiby Ginette, Barshack Iris, Katz Shulamit, Pras Elon, Poran Hana, Reznik-Wolf Haike, Ribakovsky Elena, Simon Carlos, Hazou Wadi, Sidi Yechezkel, Lahad Avishay, Katzir Hagar, Sagie Shira, Aqeilan Haifa A, Glousker Galina, Amariglio Ninette, Tzfati Yehuda, Selig Sara, Rechavi Gideon, Somech Raz

Abstract excerpt

The analysis of individuals with telomere defects may shed light on the delicate interplay of factors controlling genome stability, premature aging, and cancer. We herein describe two Coats plus patients with telomere and genomic defects; both harbor distinct, novel mutations in STN1, a member of the human CTC1-STN1-TEN1 (CST) complex, thus linking this gene for the first time to a human telomeropathy. We...

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Identifiers

PMID: 27432940
DOI: 10.1084/jem.20151618
PMCID: PMC4986528

Genes

STN1
CTC1
TEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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