Analysis of RPS6KA3 gene mutation in a Chinese pedigree affected with Coffin-Lowry syndrome / 中华医学遗传学杂志

ABSTRACT

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.