Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

Show simple item record Sukalo, Maja Fiedler, Ariane Guzman, Celina Spranger, Stephanie Addor, Marie-Claude Mcheik, Jiad N. Benavent, Manuel Oltra 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, Debora Romeo van Karnebeek, Clara D. M. Bergmann, Carsten Liu, Zhifeng Dueker, Gesche Rezaei, Nima Alkuraya, Fowzan S. Ogur, Gonul Alrajoudi, Abdullah Venegas-Vega, Carlos A. Verbeek, Nienke E. Richmond, Erick J. Kirbiyik, Ozgur Ranganath, Prajnya Singh, Ankur Godbole, Koumudi Ali, Fouad A. M. Alves, Cresio Mayerle, Julia Lerch, Markus M. Witt, Heiko Zenker, Martin 2016-01-24T14:37:13Z 2016-01-24T14:37:13Z 2014-05-01
dc.identifier.citation Human Mutation. Hoboken: Wiley-Blackwell, v. 35, n. 5, p. 521-531, 2014.
dc.identifier.issn 1059-7794
dc.description.abstract Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. This syndrome is caused by a defect of the E3 ubiquitin ligase UBR1, which is part of the proteolytic N-end rule pathway. Herein, we review previously reported (n=29) and a total of 31 novel UBR1 mutations in relation to the associated phenotype in patients from 50 unrelated families. Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS. There is an association of missense mutations and small in-frame deletions with milder physical abnormalities and a normal intellectual capacity, thus suggesting that at least some of these may represent hypomorphic UBR1 alleles. the review of clinical data of a large number of molecularly confirmed JBS cases allows us to define minimal clinical criteria for the diagnosis of JBS. for all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD. en
dc.description.sponsorship German Research Foundation
dc.format.extent 521-531
dc.language.iso eng
dc.publisher Wiley-Blackwell
dc.relation.ispartof Human Mutation
dc.rights Acesso restrito
dc.subject Johanson-Blizzard syndrome en
dc.subject UBR1 en
dc.subject exocrine pancreatic insufficiency en
dc.subject aplasia of alae nasi en
dc.subject cognitive impairment en
dc.title Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum en
dc.type Artigo
dc.contributor.institution Univ Hosp Magdeburg
dc.contributor.institution Univ Hosp Erlangen
dc.contributor.institution Hosp Nacl Ninos Dr Carlos Saenz Herrera
dc.contributor.institution Klinikum Bremen Mitte
dc.contributor.institution CHU Vaudois
dc.contributor.institution Univ Hosp
dc.contributor.institution Hosp La Fe
dc.contributor.institution AMC Univ Hosp
dc.contributor.institution Vanderbilt Univ
dc.contributor.institution Cleveland Clin
dc.contributor.institution Guys Hosp
dc.contributor.institution Kariminejad Najmabadi Pathol & Genet Ctr
dc.contributor.institution Greenwood Genet Ctr
dc.contributor.institution Umea Univ
dc.contributor.institution Womens & Childrens Hosp
dc.contributor.institution Stiftung Deutsch Klin Diagnost GmbH
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Univ British Columbia
dc.contributor.institution Ctr Human Genet
dc.contributor.institution Nanjing Med Univ
dc.contributor.institution Univ Klinikum Bonn
dc.contributor.institution Univ Tehran Med Sci
dc.contributor.institution King Faisal Specialist Hosp & Res Ctr
dc.contributor.institution Ondokuz Mayis Univ
dc.contributor.institution Al Thawra Teaching Hosp
dc.contributor.institution Hosp Gen Mexico City
dc.contributor.institution Univ Med Ctr Utrecht
dc.contributor.institution Natl Childrens Hosp
dc.contributor.institution Sisli Etfal Res Hosp
dc.contributor.institution Nizams Inst Med Sci
dc.contributor.institution Maulana Azad Med Coll
dc.contributor.institution Deenanath Mangeshkar Hosp & Res Ctr
dc.contributor.institution Minist Hlth
dc.contributor.institution Universidade Federal da Bahia (UFBA)
dc.contributor.institution Ernst Moritz Arndt Univ Greifswald
dc.contributor.institution Tech Univ Munich
dc.description.affiliation Univ Hosp Magdeburg, Inst Human Genet, D-39120 Magdeburg, Germany
dc.description.affiliation Univ Hosp Erlangen, Inst Human Genet, Erlangen, Germany
dc.description.affiliation Hosp Nacl Ninos Dr Carlos Saenz Herrera, Dept Med, San Jose, Costa Rica
dc.description.affiliation Klinikum Bremen Mitte, Bremen, Germany
dc.description.affiliation CHU Vaudois, Dept Med Genet, CH-1011 Lausanne, Switzerland
dc.description.affiliation Univ Hosp, Dept Pediat Surg, Poitiers, France
dc.description.affiliation Hosp La Fe, Dept Pediat, E-46009 Valencia, Spain
dc.description.affiliation AMC Univ Hosp, Dept Pediat Genet, Amsterdam, Netherlands
dc.description.affiliation Vanderbilt Univ, Monroe Carell Jr Childrens Hosp, Div Pediat Gastroenterol Hepatol & Nutr, Nashville, TN 37235 USA
dc.description.affiliation Cleveland Clin, Genom Med Inst, Cleveland, OH 44106 USA
dc.description.affiliation Guys Hosp, London SE1 9RT, England
dc.description.affiliation Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran
dc.description.affiliation Greenwood Genet Ctr, Greenwood, SC 29646 USA
dc.description.affiliation Umea Univ, Dept Med Biosci Med & Clin Genet, Umea, Sweden
dc.description.affiliation Womens & Childrens Hosp, SA Clin Genet Serv, Adelaide, SA, Australia
dc.description.affiliation Stiftung Deutsch Klin Diagnost GmbH, Fachbereich Kinder & Jugendmed, Wiesbaden, Germany
dc.description.affiliation Univ São Paulo, Dept Pediat, São Paulo, Brazil
dc.description.affiliation Univ British Columbia, Dept Pediat, Div Biochem Dis, BC Childrens Hosp, Vancouver, BC V6T 1W5, Canada
dc.description.affiliation Ctr Human Genet, Ingelheim, Germany
dc.description.affiliation Nanjing Med Univ, Nanjing Childrens Hosp, Dept Digest Dis, Nanjing, Jiangsu, Peoples R China
dc.description.affiliation Univ Klinikum Bonn, Zentrum Kinderheilkunde, Bonn, Germany
dc.description.affiliation Univ Tehran Med Sci, Childrens Med Ctr, Res Ctr Immunodeficiencies, Tehran, Iran
dc.description.affiliation Univ Tehran Med Sci, Dept Immunol, Tehran, Iran
dc.description.affiliation King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
dc.description.affiliation Ondokuz Mayis Univ, Dept Med, Samsun, Turkey
dc.description.affiliation Ondokuz Mayis Univ, Dept Pediat Genet, Samsun, Turkey
dc.description.affiliation Al Thawra Teaching Hosp, Dept Pediat, Sanaa, Yemen
dc.description.affiliation Hosp Gen Mexico City, Fac Med, Dept Human Genet, Mexico City, DF, Mexico
dc.description.affiliation Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands
dc.description.affiliation Natl Childrens Hosp, San Jose, Costa Rica
dc.description.affiliation Sisli Etfal Res Hosp, Dept Med Genet, Istanbul, Turkey
dc.description.affiliation Nizams Inst Med Sci, Dept Med Genet, Hyderabad, Andhra Pradesh, India
dc.description.affiliation Maulana Azad Med Coll, Dept Pediat, New Delhi, India
dc.description.affiliation Deenanath Mangeshkar Hosp & Res Ctr, Dept Genet, Erandawane, India
dc.description.affiliation Minist Hlth, Dept Pediat, Manama, Bahrain
dc.description.affiliation Univ Fed Bahia, Fac Med, Hosp Univ Prof Edgar Santos, Pediat Endocrinol Unit, Salvador, BA, Brazil
dc.description.affiliation Ernst Moritz Arndt Univ Greifswald, Univ Med, Dept Med A, Greifswald, Germany
dc.description.affiliation Tech Univ Munich, Else Kroner Fresenius Zentrum Ernahrungsmed, Freising Weihenstephan, Germany
dc.description.affiliation Tech Univ Munich, Zent Inst Ernahrungs & Lebensmittelforsch, Freising Weihenstephan, Germany
dc.description.affiliation Tech Univ Munich, Klinikum Rechts Isar, Dept Pediat, D-80290 Munich, Germany
dc.description.sponsorshipID German Research Foundation: DFG ZE 524/2-3
dc.identifier.doi 10.1002/humu.22538
dc.description.source Web of Science
dc.identifier.wos WOS:000334658800003


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