Bloom syndrome

The Bloom syndrome belongs to the group of chromosome breakage syndromes and is characterized by dwarfism and deformity deformities paired with an increased cancer risk. It is characterized by a pronounced genetic instability.

Sister strand exchanges are very common, resulting in an increased occurrence of malignancies. The cause is a mutation of the BLM gene which codes for an enzymatically active protein, the Bloom syndrome protein. The purpose of this polypeptide is to monitor the interphase of the cell cycle and to counteract any possible degeneration.

DNA replication may be disrupted, with far-reaching consequences for the cells. As a result of this disorder, among other things, there is an increased risk of cancer.

Inheritance is autosomal recessive.