Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum. Issue 5 (9th April 2014)

• Record Type: Journal Article
• Authors: Sukalo, Maja; Fiedler, Ariane; Guzmán, Celina; Spranger, Stephanie; Addor, Marie‐Claude; Mcheik, Jiad N.; Oltra Benavent, Manuel; Cobben, Jan M.; Gillis, Lynette A.; Shealy, Amy G.; Deshpande, Charu; Bozorgmehr, Bita; Everman, David B.; Stattin, Eva‐Lena; Liebelt, Jan; Keller, Klaus‐Michael; Bertola, Débora Romeo; van, Clara D.M.; Bergmann, Carsten; Liu, Zhifeng; Düker, Gesche; Rezaei, Nima; Alkuraya, Fowzan S.; Oğur, Gönül; Alrajoudi, Abdullah; Venegas‐Vega, Carlos A.; Verbeek, Nienke E.; Richmond, Erick J.; Kirbiyik, Özgür; Ranganath, Prajnya; Singh, Ankur; Godbole, Koumudi; Ali, Fouad A. M.; Alves, Crésio; Mayerle, Julia; Lerch, Markus M.; Witt, Heiko; Zenker, Martin;
• Is Part Of: Human mutation. Volume 35:Issue 5(2014:May)
• Page Start: 521
• Page End: 531
• Publication Date: 2014-04-09
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22538
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22538-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>This article reviews 60 <italic>UBR1</italic> mutations including 31 novel ones observed in 50 families affected by Johanson–Blizzard syndrome. Genotype‐phenotype correlations are reported. Additionally, diagnostic criteria for the syndrome are proposed on the basis of the clinical data collected from individuals with a molecularly confirmed diagnosis of Johanson–Blizzard syndrome. A database was set up at LOVD, providing public access to genotype and phenotype data. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg5ndpg84z" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>