There is abundant evidence published associating the RECQL4 gene with Rothmund-Thomson Syndrome since the gene-disease relationship was first proposed by Kitao et al. (1999). Multiple case level studies have been performed with RTS patients that have variants in the RECQL4 gene. WRN and BLM, another two RecQ DNA helicases, are associated with Werner and Bloom syndromes. All three are disorders of chromosomal instability and manifest growth retardation, premature aging, and predisposition to malignancies. RT-PCR analysis of RECQL4 cDNA from patient's cells showed diffuse splicing defects. Defective repair of H2O2-induced DNA lesions was reported in primary RTS patient's cell line, AG05013. Multiple RECQL4 deficient mouse models have been established to show consistent phenotypes with RTS patients, including growth retardation, skin and several other tissue abnormalities, birth defects of the skeletal system and increased cancer susceptibility. All of these types of evidence are consistent with a definitive relationship between the RECQL4 gene and Rothmund-Thomson Syndrome (RTS).
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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