What is RECQL4?


RECQL4 is a gene located on chromosome 8. Genes are packages of DNA, or genetic material that help in the formation of proteins which carry out specific functions in the body. RECQL4 is the only gene that is currently known to be associated with RTS. Patients with mutations, or changes, in both copies of their RECQL4 genes can develop RTS. However, only about two-thirds of patients with clinical diagnosis of RTS will have mutations found in their RECQL4 genes. Therefore, there are likely other genes that can also cause RTS. DNA sequence analysis and mutation testing of the RECQL4 gene are available through the Baylor College of Medicine Medical Genetics Laboratory. Presence of mutations in RECQL4 can confirm a diagnosis of RTS; however, absence of mutations in RECQL4 does not necessarily mean that the patient does not have RTS, since one-third of patients clinically diagnosed with RTS do not have mutations in this gene. Researchers at Texas Children's Cancer Center have shown that presence of RECQL4 mutations is associated with increased risk for developing osteosarcoma. They are continuing to study the function of the RECQL4 protein to try to understand why lack of this protein leads to the findings seen in RTS.


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