POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome. Issue 11 (6th August 2015)

• Record Type: Journal Article
• Authors: Lessel, Davor; Hisama, Fuki M.; Szakszon, Katalin; Saha, Bidisha; Sanjuanelo, Alexander Barrios; Salbert, Bonnie A.; Steele, Pamela D.; Baldwin, Jennifer; Brown, W. Ted; Piussan, Charles; Plauchu, Henri; Szilvássy, Judit; Horkay, Edit; Högel, Josef; Martin, George M.; Herr, Alan J.; Oshima, Junko; Kubisch, Christian
• Is Part Of: Human mutation. Volume 36:Issue 11(2015:Nov.)
• Page Start: 1070
• Page End: 1079
• Publication Date: 2015-08-06
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22833
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22833-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We have systematically analysed the <italic>POLD1</italic> gene in 50 patients initially diagnosed with Werner Syndrome in whom no mutations in the Werner helicase gene were identified. Indeed, we found eight patients with heterozygous <italic>POLD1</italic> mutations, thereby identifying the most common molecular cause of atypical Werner Syndrome until now. In addition, we could more than double the overall number of progeroid patients with <italic>POLD1</italic> mutations, which allowed to substantially expand and modify the clinical characterization of this new example of a segmental progeroid disorder. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgkfnq9wr8" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>