Bloom Syndrome is an autosomal recessive disorder caused by mutations in the BLM gene.
Mutations in a BLM cause defects in helicase, impairing the ‘unzipping’ of double-stranded DNA. This affects many DNA processes, such as DNA replication and repair, and ultimately results in genomic instability.
Clinical features include short stature, photosensitivity, cafe-au-lait spots, and an increased risk for cancer.
Find this Bloom Syndrome mnemonic and more DNA Repair mnemonics among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.