Crystal structure of the Bloom's syndrome helicase BLM, gray, in complex with DNA, shown in color (PDB ID: 4CGZ).
Specialty
Medical genetics
Bloom syndrome (often abbreviated as BS in literature)[1] is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. BS is caused by mutations in the BLM gene which is a member of the RecQ DNA helicase family. Mutations in genes encoding other members of this family, namely WRN and RECQL4, are associated with the clinical entities Werner syndrome and Rothmund–Thomson syndrome, respectively. More broadly, Bloom syndrome is a member of a class of clinical entities that are characterized by chromosomal instability, genomic instability, or both and by cancer predisposition.
Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and sister chromatid exchanges (SCEs). The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954.[2]
Bloom syndrome has also appeared in the older literature as Bloom–Torre–Machacek syndrome.[3]
^Online Mendelian Inheritance in Man (OMIM): Bloom Syndrome; BLM - 210900
^Bloom D (1954). "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity". American Journal of Diseases of Children. 88 (6): 754–8. doi:10.1001/archpedi.1954.02050100756008. PMID 13206391.
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 575. ISBN 978-0-7216-2921-6.
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