Rothmund-Thomson综合征一例基因检测分析

Gene detection of Rothmund-Thomson syndrome

目的:对一例自幼身材矮小、发育迟缓、周身皮肤异色症的患儿进行基因检测,以明确诊断确定病因。方法:收集患儿临床资料,提取患儿及其父母外周血DNA,采用全外显子组测序检测潜在的基因突变,并通过Sanger测序进行验证。结果:该患儿在RECQL4基因上携带两个复合杂合突变:(c.1579dupA)(p.T527fs)和(c.2290 C>T)(p. Q764X),其中,突变c.1579dupA既往未被报道。结论:结合患儿临床表现及全外显子组测序结果,诊断为Rothmund-Thomson综合征,致病基因为RECQL4,且该研究发现新突变c.1579dupA,进一步丰富了疾病基因库。

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.1579 dupA, caused frameshift mutation. Another was c.2290 C>T, which led to nonsense mutation. The mutation c.1579 dupA 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.1579 dupA is a novel mutation which enriched the mutational spectrum of the RECQL4 gene.