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.
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.
Authors: Ana Sofía Herrera-Van Oostdam; Juan Carlos Toro-Ortíz; Jesús Adrián López; Daniel E Noyola; David Alejandro García-López; Noé Valentín Durán-Figueroa; Eduardo Martínez-Martínez; Diana P Portales-Pérez; Mariana Salgado-Bustamante; Yamilé López-Hernández Journal: Int J Mol Med Date: 2020-06-03 Impact factor: 4.101