Two new mutations in the RECQL4 gene of a Han Chinese patient with Rothmund‐Thomson syndrome (RTS)

Rothmund‐Thomson syndrome (RTS) is a human genetic disorder characterized by genome instability, cancer susceptibility and premature aging. The diagnosis of RTS is based on clinical grounds. Truncating mutations in RECQL4 gene, mainly found in RTS patients, are responsible for a subset of cases of RTS. Thus mutation analysis of the RECQL4 gene combining with clinical features may provide new thought in diagnosing RTS. Here we carried out a sequencing analysis of the RECQL4 gene in a 3.5‐year‐old boy with known RTS, who developed cardinal features associated with the spectrum of ¡®RECQL4 syndromes¡¯. DNA was extracted from peripheral blood and a sequencing analysis was performed. One splice site mutation (IVS11‐1G>A) and one nonsense mutation (3401A>T) in exon 10 were identified in RECQL4 gene of the patient. The mother was identified as a carrier for the nonsense mutation and the father for the splice site mutation respectively. These two unreported mutations, IVS11‐1G>A and 3401A>T, may be responsible for the rare clinical phenotypes of the RTS patient observed in this study. This case report may provide useful information for the clinician to address the genotype‐phenotype correlation in RTS patients and will help to define treatment guidelines for this complex and rare syndrome. This research was supported by Department of Dermatology, the 2nd Affiliated Hospital of Harbin Medical University, Harbin, China.