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We found inherited mutations in the regulator of telomere elongation helicase 1 (RTEL1), which cause Hoyeraal\u2013Hreidarsson syndrome, a fatal disease characterized by accelerated telomere shortening, immunodeficiency, and developmental defects. Introducing a normal RTEL1 gene into affected cells prevented telomere shortening and extended their lifespan in culture. The telomere defects, genomic instability, and growth arrest observed in RTEL1-deficient cells help in our understanding the central roles of telomeres in aging and cancer.<\/jats:p>","DOI":"10.1073\/pnas.1300600110","type":"journal-article","created":{"date-parts":[[2013,8,19]],"date-time":"2013-08-19T21:59:24Z","timestamp":1376949564000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":154,"title":["Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal\u2013Hreidarsson syndrome"],"prefix":"10.1073","volume":"110","author":[{"given":"Zhong","family":"Deng","sequence":"first","affiliation":[{"name":"Program in Gene Expression and Regulation, The Wistar Institute, Philadelphia, PA 19104;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina","family":"Glousker","sequence":"additional","affiliation":[{"name":"Department of Genetics, The Silberman Institute of Life Sciences, Hebrew 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