Mutations in STN1 Cause Coats Plus Syndrome and Are Associated with Genomic and Telomere Defects

Overview

Journal J Exp Med

Specialties Allergy & Immunology
General Medicine

Date 2016 Jul 20

PMID 27432940

Citations 73

Authors

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

Affiliations

Soon will be listed here.

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.

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