Bachmann-Bupp syndrome (BABS) is caused by a pathogenic variant in the ODC1 gene. A gene is a piece of DNA that encodes for a protein that has a function in the organism. Harmful changes in a specific region of the ODC1 gene lead to elevated ODC protein and polyamine levels. Polyamines are naturally occurring compounds found in our cells that control many essential processes, including cell division and growth. Pathogenic variants in the ODC1 gene can be detected by sequencing the gene if the physician suspects the condition based on clinical characteristics, or by comprehensive genomic testing (exome sequencing, genome sequencing).
ODC1