{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:42:17Z","timestamp":1747183337032,"version":"3.40.5"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T00:00:00Z","timestamp":1663027200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>Telomeres are DNA sequences of tandem TTAGGG repeats that protect chromosome ends from degradation and instability. Constitutional loss\u2010of\u2010function telomerase mutations result in rapid telomere shortening, premature senescence and cell death. Liver cirrhosis is rare and has only been reported in adults. We present five family members of Bedouin\u2010Muslim origin, all of which carry the same mutation, and yet demonstrate an extremely variable phenotypical presentation, including liver cirrhosis during early childhood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A multidisciplinary long\u2010term follow\u2010up of two healthy and three affected patients was analysed. The mutation (r.95G&gt;C) was identified in all patients using Sanger sequencing. Telomere length samples were obtained and analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Clinical phenotypes were extremely variable, including age at first symptoms, organ involvement, disease severity and patient prognosis. The most prominent clinical phenotype is liver involvement, including end\u2010stage liver disease early in life, which affects three members of the family. Affected patients had markedly shorter telomeres.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We describe an unusual presentation of early liver failure in telomere disease patients. Little, if any, is known about the association between the genotype and phenotype among children with telomere disease and whether the mutation we have described (r.95G&gt;C) is predisposed to early severe hepatic involvement.<\/jats:p><\/jats:sec>","DOI":"10.1111\/apa.16539","type":"journal-article","created":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T16:09:24Z","timestamp":1662566964000},"page":"2416-2421","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Early\u2010life liver cirrhosis and variable clinical presentation in telomere disease"],"prefix":"10.1111","volume":"111","author":[{"given":"Yaniv","family":"Faingelernt","sequence":"first","affiliation":[{"name":"Paediatric Gastroenterology Unit Soroka University Medical Centre  Beer\u2010Sheva Israel"},{"name":"Faculty of Health Sciences Ben\u2010Gurion University  Beer\u2010Sheva 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