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
Pages
5
From page
325
To page
329
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
Serial Year
2018
Record number
2480366
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