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At least 19 different truncating pathogenic variants in this gene have been identified as deleterious.[212] These pathogenic variants cause severe down-regulation of RECQL4 transcripts in this subset of individuals with Rothmund-Thomson syndrome.[213] Cells deficient in RECQL4 have been found to be hypersensitive to oxidative stress, resulting in decreased DNA synthesis.[214] Deficiencies in the RecQ helicases permit hyper-recombination, thereby leading to loss of heterozygosity

Muhammad Nadzri N, Abdul AB, Sukari MA, et al

Precautions: Avoid overuse to minimize inflammatory response

African Health Sciences, 15 (4), 11421148

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