Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran

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 ۱۴-year-old male patient, diagnosed with CLS based on his clinical features. Genetic testing revealed a de novo mutation in ribosomal protein S۶ kinase alpha-۳ (RPS۶KA۳) gene (c.۲۱۸۵C>T; p. Arg۷۲۹Trp). This is the first molecularly confirmed case report of a patient with CLS from Iran.

Keywords:

Coffin-lowry Syndrome , RPS۶KA۳ , RSK۲ , X-linked mental retardation , Whole exome sequencing