Abstract:

Objective To detect the mutations in RECQL4 gene in a Chinese patient with Rothmund- Thomson syndrome（RTS）. Methods Blood samples were collected from a sporadic patient with RTS, his unaffected parents and 30 unrelated population-matched controls. DNA was extracted, and all the coding sequences of RECQL4 gene were amplified by PCR. Direct sequencing was performed with the amplicons to detect the possible mutations in these subjects. Results Two mutations, i.e., IVS11-1G > A and 3401 A > T, which resulted in a premature termination codon at amino acid 560, were found in the RECQL4 gene of the patient. His father was heterozygous for IVS11-1G > A, and his mother for 3401 A > T. Meanwhile, neither of the two mutations were observed in 30 unrelated normal control individuals. Conclusion Two mutations, including IVS11-1G > A and 3401 A > T are present in the RECQL4 gene of the sporadic patient with RTS.

Key words: Rothmund-Thomson syndrome;RECQL4 Gene;Mutation