Abstract: Objective: To detect the mutation for a child presented with short stature, developmental retardation, and poikiloderma to confirm diagnosis and pathogenesis. Methods: Clinical data and the peripheral blood of the proband and her parents were collected and genome DNA was extracted. Whole exome sequencing as well as Sanger sequencing were performed. Results: The compound heterozygous variants of the RECQL4 gene was found in the proband. One was c.1579dupA, caused frameshift mutation. Another was c.2290 C＞T, which led to nonsense mutation. The mutation c.1579dupA was unreported previously. Conclusion: The patient was diagnosed with Ruthmund-Thomson syndrome based on clinical manifestations and the result of whole exome sequencing. The compound heterozygous variants of the RECQL4 gene probably accounted for the Ruthmund-Thomson syndrome in this patient. The c.1579dupA is a novel mutation which enriched the mutational spectrum of the RECQL4 gene.

Key words: Rothmund-Thomson syndrome, RECQL4 gene, whole exome sequencing