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

Abstract

OBJECTIVE\nTo identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome.\n\n\nMETHODS\nWhole exome sequencing was applied to detect potential mutation in the proband, and the result was verified by Sanger sequencing.\n\n\nRESULTS\nThe 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.\n\n\nCONCLUSION\nThe c.966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies the disorder in this pedigree.