Article
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
Molecular genetics & genomic medicine - 1 Nov 2017
Sukalo Maja, Schäflein Eva, Schanze Ina, Everman David B, Rezaei Nima, Argente Jesús, Lorda-Sanchez Isabel, Deshpande Charu, Takahashi Tsutomu, Kleger Alexander, Zenker Martin
Abstract excerpt
BACKGROUND: Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway. METHODS: Molecular findings in a total of 65 unrelated patients with a clinical...
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