There has been substantial evidence published associating the BLM gene with Bloom syndrome since the gene-disease relationship was first proposed by Ellis et al. (1995). Multiple case level studies have been performed with BS patients that have variants in the BLM gene. WRN and RECQL4, another two RecQ DNA helicases, are associated with Werner and Rothmund–Thomson syndromes. All three are disorders of chromosomal instability and manifest growth retardation, and predisposition to malignancies. Northern blot analysis of mRNAs derived from selected Bloom’s syndrome cell lines showed absent or abnormal BLM RNA. Multiple BLM deficient mouse models have been established to show consistent phenotypes with BS patients, especially increased rate of SCE and the development of a wide spectrum of cancer. All of these types of evidence combined are consistent with a definitive relationship between the BLM gene and Bloom Syndrome (BS).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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