TY - JOUR
T1 - Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects
AU - Wiest, David L.
N1 - Publisher Copyright:
© 2016 Simon et al.
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.
UR - http://www.scopus.com/inward/record.url?scp=84982985706&partnerID=8YFLogxK
U2 - 10.1084/jem.20151618
DO - 10.1084/jem.20151618
M3 - Article
C2 - 27432940
SN - 0022-1007
VL - 213
SP - 1429
EP - 1440
JO - Journal of Experimental Medicine
JF - Journal of Experimental Medicine
IS - 8
ER -