Volume 16, Issue 3 (September 2018)                   Iranian Rehabilitation Journal 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. Iranian Rehabilitation Journal 2018; 16 (3) :325-329
URL: http://irj.uswr.ac.ir/article-1-888-en.html
Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran
Ali Nikfar1 , Mojdeh Mansouri1 , Gita Fatemi Abhari * 2
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:   (5609 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.
Keywords: Coffin-lowry Syndrome, RPS6KA3, RSK2, X-linked mental retardation, Whole exome sequencing
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Article type: Case Reports | Subject: Genetics
Received: 2018/03/29 | Accepted: 2018/06/20 | Published: 2018/09/1
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