Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
J Exp Med
; 213(8): 1429-40, 2016 07 25.
Article
em En
| MEDLINE
| ID: mdl-27432940
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Retinianas
/
Ataxia
/
Convulsões
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Talidomida
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Neoplasias Encefálicas
/
Calcinose
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Regulação da Expressão Gênica
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Telômero
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Cistos do Sistema Nervoso Central
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Proteínas de Ligação a Telômeros
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article