What is Johanson-Blizzard Syndrome? RareDiseases JohansonBlizzardSyndrome
Genetics Johanson–Blizzard syndrome is a rare autosomal recessive condition caused by homozygous and compound heterozygous mutations in the UBR1 gene. Until 2005, the genetic abnormality that caused the syndrome was unknown.
Causes and symptoms Mutations in the UBR1 gene cause Johanson-Blizzard syndrome. This gene instructs the body to make a protein that is necessary for the pancreas to function properly. Acinar cells, which are found in the pancreas, generate this protein. Acinar cells are crucial because they assist the pancreas to create digestive enzymes that allow it to break down food and use the nutrients for growth.
Epidemiology JBS is predicted to affect 1 in every 250,000 people. There is no gender difference in JBS cases reported to date. Consanguinity between parents is a common occurrence.
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