RT - Journal Article T1 - Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran JF - Iranian-Rehabilitation-Journal YR - 2018 JO - Iranian-Rehabilitation-Journal VO - 16 IS - 3 UR - http://irj.uswr.ac.ir/article-1-888-en.html SP - 325 EP - 329 K1 - Coffin-lowry Syndrome K1 - RPS6KA3 K1 - RSK2 K1 - X-linked mental retardation K1 - Whole exome sequencing AB - 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. LA eng UL http://irj.uswr.ac.ir/article-1-888-en.html M3 10.32598/irj.16.3.325 ER -