Johanson-Blizzard syndrome

Definition:

Johanson-Blizzard syndrome is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen is the most consistent feature. Nasal wing hypoplasia, scalp defects, and sensorineural hearing loss are additional clinical features of the disease. The causative gene, ubiquitin-protein ligase E3 component N-recognin 1 (UBR1), is involved in protein destabilization.

References:

[1]. Cheol-Sang Hwang, et al. Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. PLoS One. 2011;6(9):e24925. [Content Brief]

[2]. Martin Zenker, et al. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet. 2005 Dec;37(12):1345-50. [Content Brief]

[3]. Nima Rezaei, et al. Eponym: Johanson-Blizzard syndrome. Eur J Pediatr. 2011 Feb;170(2):179-83. [Content Brief]

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