TY - JOUR JF - Iranian-Rehabilitation-Journal JO - Iranian Rehabilitation Journal VL - 16 IS - 3 PY - 2018 Y1 - 2018/9/01 TI - Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran TT - N2 - 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. SP - 325 EP - 329 AU - Nikfar, Ali AU - Mansouri, Mojdeh AU - Fatemi Abhari, Gita AD - Imam Khomeini Genetic Counseling Center, Welfare Organization of Zanjan, Zanjan, Iran. KW - Coffin-lowry Syndrome KW - RPS6KA3 KW - RSK2 KW - X-linked mental retardation KW - Whole exome sequencing UR - http://irj.uswr.ac.ir/article-1-888-en.html DO - 10.32598/irj.16.3.325 ER -