一个Coffin-Lowry综合征家系的RPS6KA3基因变异分析

Analysis of RPS6KA3 gene mutation in a Chinese pedigree affected with Coffin-Lowry syndrome

目的对1个Coffin-Lowry综合征家系进行RPS6KA3基因检测,以明确其遗传学病因。方法应用全外显子组测序技术对先证者及其父母的RPS6KA3基因进行变异检测,用Sanger测序进一步验证。结果先证者检出RPS6KA3基因第12外显子c.966_967delAA(p.Arg323Thr fs*11)半合子变异,母亲携带c.966_967delAA(p.Arg323Thr fs*11)杂合变异,父亲未检测到该位点变异。结论RPS6KA3基因c.966_967delAA(p.Arg323Thr fs*11)变异为该Coffin-Lowry综合征家系患儿的致病原因。

Objective To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome. Methods Whole exome sequencing was applied to detect potential mutation in the proband, and the result was verified by Sanger sequencing. Results The proband was found to carry a c. 966_967delAA (p.Arg323Thr fs*11) deletional mutation in the RPS6KA3 gene. The same mutation was also found in his mother. Conclusion The c. 966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies the disorder in this pedigree.