Please use this identifier to cite or link to this item: http://repositorio.unifesp.br/handle/11600/37708
Title: Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum
Authors: 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
Univ Hosp Magdeburg
Univ Hosp Erlangen
Hosp Nacl Ninos Dr Carlos Saenz Herrera
Klinikum Bremen Mitte
CHU Vaudois
Univ Hosp
Hosp La Fe
AMC Univ Hosp
Vanderbilt Univ
Cleveland Clin
Guys Hosp
Kariminejad Najmabadi Pathol & Genet Ctr
Greenwood Genet Ctr
Umea Univ
Womens & Childrens Hosp
Stiftung Deutsch Klin Diagnost GmbH
Universidade Federal de São Paulo (UNIFESP)
Univ British Columbia
Ctr Human Genet
Nanjing Med Univ
Univ Klinikum Bonn
Univ Tehran Med Sci
King Faisal Specialist Hosp & Res Ctr
Ondokuz Mayis Univ
Al Thawra Teaching Hosp
Hosp Gen Mexico City
Univ Med Ctr Utrecht
Natl Childrens Hosp
Sisli Etfal Res Hosp
Nizams Inst Med Sci
Maulana Azad Med Coll
Deenanath Mangeshkar Hosp & Res Ctr
Minist Hlth
Universidade Federal da Bahia (UFBA)
Ernst Moritz Arndt Univ Greifswald
Tech Univ Munich
Keywords: Johanson-Blizzard syndrome
UBR1
exocrine pancreatic insufficiency
aplasia of alae nasi
cognitive impairment
Issue Date: 1-May-2014
Publisher: Wiley-Blackwell
Citation: Human Mutation. Hoboken: Wiley-Blackwell, v. 35, n. 5, p. 521-531, 2014.
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.
URI: http://repositorio.unifesp.br/handle/11600/37708
ISSN: 1059-7794
Other Identifiers: http://dx.doi.org/10.1002/humu.22538
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