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

ABSTRACT:

Background

Bloom syndrome is an autosomal recessive disorder characterized by extraordinary cancer incidence early in life and an average life expectancy of ~27 years. Premature stop codons in BLM, which encodes a DNA helicase that functions in DNA double-strand-break repair, make up the vast majority of Bloom syndrome mutations, with only 13 single amino acid changes identified in the syndrome. Sequencing projects have identified nearly one hundred single nucleotide variants in BLM that cause amino acid changes of uncertain significance.

Methods and results

Here, in addition to identifying five BLM variants incapable of complementing certain defects of Bloom syndrome cells, making them candidates for new Bloom syndrome causing mutations, we characterize a new class of BLM v

SUBMITTER: Shastri VM 

PROVIDER: S-EPMC4707026 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature