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Letter

Nature Genetics 37, 1345–1350 (1 December 2005) | doi:10.1038/ng1681

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker , Julia Mayerle , Markus M Lerch , Andreas Tagariello , Klaus Zerres , Peter R Durie , Matthias Beier , Georg H|[uuml]|lskamp , Celina Guzman , Helga Rehder , Frits A Beemer , Ben Hamel , Philippe Vanlieferinghen , Ruth Gershoni-Baruch , Marta W Vieira , Miroslav Dumic , Ron Auslender , Vera L Gil-da-Silva-Lopes , Simone Steinlicht , Manfred Rauh , Stavit A Shalev , Christian Thiel , Andreas Winterpacht , Yong Tae Kwon , Alexander Varshavsky & Andr|[eacute]| Reis

Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated locus to chromosome 15q14–21.1 and identified mutations, mostly truncating ones, in the gene UBR1 in 12 unrelated families with Johanson-Blizzard syndrome.