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

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

88 Scopus citations


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 characterized the patients' phenotype, recapitulated it in a zebrafish model and rescued cellular and clinical aspects by the ectopic expression of wild-type STN1 or by thalidomide treatment. Interestingly, a significant lengthy control of the gastrointestinal bleeding in one of our patients was achieved by thalidomide treatment, exemplifying a successful bed-to-bench-and-back approach.

Original languageAmerican English
Pages (from-to)1429-1440
Number of pages12
JournalJournal of Experimental Medicine
Issue number8
StatePublished - 25 Jul 2016

Bibliographical note

Funding Information:
We thank all our patients and their families for their cooperation. Raz Somech is supported by the Jeffrey Model Foundation (JMF). David L. Wiest is supported by NIH grant R21AI111208. Sara Selig is supported by Israel Science Foundation (grant No. 883/12). Yehuda Tzfati is supported by the Israel Science Foundation (grant No. 1729/13), Worldwide Cancer Research (grant No. 15-0338) and a project grant from the Israel Cancer Research Fund. Gideon Rechavi thanks the Kahn Family Foundation for their continuous support. He holds the Djerassi Chair for Oncology at the Tel-Aviv University, Israel and is supported by grants from the Israel Science Foundation (grant no. 1667/12), the Israeli Centers of Excellence (I-CORE) Program (ISF grants No. 41/11 and No. 1796/12), the Ernest and Bonnie Beutler Research Program, the Sagol Neuroscience Network and the Teva National Network of Excellence in Neuroscience. All authors declare no competing financial interests.

Publisher Copyright:
© 2016 Simon et al.


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