en ژنتیک Genetics گزارش موردي Case Reports <div style="text-align: justify;">Coffin-Lowry syndrome (CLS) is an X-linked disorder, which affects hemizygous males more severely than females. It is characterized by mental retardation, short stature, head and facial abnormalities, skeletal anomalies and developmental delays. The signs and symptoms vary in different people. We report a 14-year-old male patient, diagnosed with CLS based on his clinical features. Genetic testing revealed a de novo mutation in ribosomal protein S6 kinase alpha-3 (RPS6KA3) gene (c.2185C>T; p. Arg729Trp). This is the first molecularly confirmed case report of a patient with CLS from Iran.</div> Coffin-lowry Syndrome, RPS6KA3, RSK2, X-linked mental retardation, Whole exome sequencing 325 329 http://irj.uswr.ac.ir/browse.php?a_code=A-10-770-1&slc_lang=en&sid=1 Ali Nikfar ali.nikfar7@yahoo.com 0000-0002-3217-6487 No Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran. Mojdeh Mansouri mojdeh.mansouri20@gmail.com 0000-0002-7282-6464 No Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran. Gita Fatemi Abhari g.fatemi.md@gmail.com Yes Imam Khomeini Genetic Counseling Center, Welfare Organization of Zanjan, Zanjan, Iran.