Johanson-Blizzard Syndrome Gene Found

Johanson-Blizzard syndrome is characterized by congenital exocrine pancreatic insufficiency and striking underdevelopment of the alae nasi (lateral wings) of the nose, as well as occasional scalp defects, imperforate anus, deafness, hypothyroidism, dental defects, genitourinary anomalies, and mental retardation. The condition is autosomal recessive and thought to occur in about 1 in 250,000 individuals. In this study, researchers found that affected individuals from 12 of 13 families studied had mutations, deletions, or both on the alleles of the UBR1 gene (a ubiquitin ligase of the N-end rule pathway).