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 Ribakovsky; Carlos 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

doi:10.1084/jem.20151618

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

Department of Genetics

Research output: Contribution to journal › Article › peer-review

101 Scopus citations

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.

Original language	English
Pages (from-to)	1429-1440
Number of pages	12
Journal	Journal of Experimental Medicine
Volume	213
Issue number	8
DOIs	https://doi.org/10.1084/jem.20151618
State	Published - 25 Jul 2016

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Publisher Copyright:
© 2016 Simon et al.

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Simon, A. J., Lev, A., Zhang, Y., Weiss, B., Rylova, A., Eyal, E., Kol, N., Barel, O., Cesarkas, K., Soudack, M., Greenberg-Kushnir, N., Rhodes, M., Wiest, D. L., Schiby, G., Barshack, I., Katz, S., Pras, E., Poran, H., Reznik-Wolf, H., ... Somech, R. (2016). Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. Journal of Experimental Medicine, 213(8), 1429-1440. https://doi.org/10.1084/jem.20151618

@article{919f2474c54a408eab209e632323bef1,

title = "Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects",

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.",

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

note = "Publisher Copyright: {\textcopyright} 2016 Simon et al.",

year = "2016",

month = jul,

day = "25",

doi = "10.1084/jem.20151618",

language = "אנגלית",

volume = "213",

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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 2016, 'Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects', Journal of Experimental Medicine, vol. 213, no. 8, pp. 1429-1440. https://doi.org/10.1084/jem.20151618

TY - JOUR

T1 - Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects

AU - Simon, Amos J.

AU - Lev, Atar

AU - Zhang, Yong

AU - Weiss, Batia

AU - Rylova, Anna

AU - Eyal, Eran

AU - Kol, Nitzan

AU - Barel, Ortal

AU - Cesarkas, Keren

AU - Soudack, Michalle

AU - Greenberg-Kushnir, Noa

AU - Rhodes, Michele

AU - Wiest, David L.

AU - Schiby, Ginette

AU - Barshack, Iris

AU - Katz, Shulamit

AU - Pras, Elon

AU - Poran, Hana

AU - Reznik-Wolf, Haike

AU - Ribakovsky, Elena

AU - Simon, Carlos

AU - Hazou, Wadi

AU - Sidi, Yechezkel

AU - Lahad, Avishay

AU - Katzir, Hagar

AU - Sagie, Shira

AU - Aqeilan, Haifa A.

AU - Glousker, Galina

AU - Amariglio, Ninette

AU - Tzfati, Yehuda

AU - Selig, Sara

AU - Rechavi, Gideon

AU - Somech, Raz

PY - 2016/7/25

Y1 - 2016/7/25

N2 - 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.

AB - 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.

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U2 - 10.1084/jem.20151618

DO - 10.1084/jem.20151618

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C2 - 27432940

AN - SCOPUS:84982985706

SN - 0022-1007

VL - 213

SP - 1429

EP - 1440

JO - Journal of Experimental Medicine

JF - Journal of Experimental Medicine

IS - 8

ER -

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

Abstract

Bibliographical note

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