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Simon AJ , Lev A , Zhang Y , Weiss B , Rylova A , Eyal E , Kol N , Barel O , Cesarkas K , Soudack M , Greenberg-Kushnir N , Rhodes M , Wiest DL , Schiby G , Barshack I , Katz S , Pras E , Poran H , Reznik-Wolf H , Ribakovsky E , Simon C , Hazou W , Sidi Y , Lahad A , Katzir H , Sagie S , Aqeilan HA , Glousker G , Amariglio N , Tzfati Y , Selig S , Rechavi G , Somech R
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects
J Exp Med. 2016 Jul 25;213(8) :1429-40
PMID: 27432940    PMCID: PMC4986528    URL: http://www.ncbi.nlm.nih.gov/pubmed/27432940
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Abstract
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.
Notes
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 United States J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18.