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

@inproceedings{Simon2016MutationsIS,
  title={Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects},
  author={Amos J Simon and A Nessov Lev and Yong Zhang and Batia Weiss and A. E. Rylova and Eran Eyal and N. J. C. Kol and Ortal Barel and Keren Cesarkas and Michalle Soudack and Noa Greenberg-Kushnir and Michele R. Rhodes and David L Wiest and Ginette Schiby and Iris Barshack and Shulamit Katz and Elon Pras and Hana Poran and Haike Reznik-Wolf and Elena Ribakovsky and Carlos Sim{\'o}n and Wadi Hazou and Yechezkel Sidi and Avishay Lahad and Hagar Katzir and Shira Sagie and Haifa A Aqeilan and Galina Glousker and Ninette Amariglio and Yehuda Tzfati and Sara Selig and Gideon Rechavi and Raz Somech},
  booktitle={The Journal of experimental medicine},
  year={2016}
}
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… CONTINUE READING

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