Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM

ConclusionAllele frequency and cellular defects suggest candidates for new Bloom syndrome causing mutations, and intermediate BLM variants that are hypomorphic which, instead of causing Bloom syndrome, may increase a person's risk for cancer or possibly other Bloom‐syndrome‐associated disorders, such as type‐2 diabetes. In this study, we have determined the ability of eight new BLM variants (P690L, R717L, R791C, W803R, Y811C, P868L, G972V, G1120R) to complement defects of Bloom syndrome patient‐derived cells in DNA recombination and the DNA damage response. The study focuses on the first three hypomorphic BLM variants, which exhibit a novel set of cellular defects.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research