Volume 16, Issue 3 (September 2018)                   IRJ 2018, 16(3): 325-329 | Back to browse issues page


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Nikfar A, Mansouri M, Fatemi Abhari G. Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran. IRJ. 2018; 16 (3) :325-329
URL: http://irj.uswr.ac.ir/article-1-888-en.html
1- Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.
2- Imam Khomeini Genetic Counseling Center, Welfare Organization of Zanjan, Zanjan, Iran.
Abstract:   (115 Views)
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.
Full-Text [PDF 1327 kb]   (116 Downloads)    
Type of Study: Case Reports | Subject: Genetics
Received: 2018/03/29 | Accepted: 2018/06/20 | Published: 2018/09/1

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