Title of article :
Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran
Author/Authors :
Nikfar, Ali School of Medicine - Department of Genetics and Molecular Medicine - Zanjan University of Medical Sciences, Zanjan , Mansouri, Mojdeh School of Medicine - Department of Genetics and Molecular Medicine - Zanjan University of Medical Sciences, Zanjan , Fatemi Abhari, Gita Imam Khomeini Genetic Counseling Center - Welfare Organization of Zanjan, Zanjan
Abstract :
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.
Keywords :
Coffin-lowry Syndrome , RPS6KA3 , RSK2 , X-linked mental retardation , Whole exome sequencing
Journal title :
Astroparticle Physics
