Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran
Journal Title: Iranian Rehabilitation Journal - Year 2018, Vol 16, Issue 3
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.
Authors and Affiliations
Ali Nikfar, Mojdeh Mansouri, Gita Fatemi Abhari
Keywords
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- EP ID EP464504
- DOI 10.32598/irj.16.3.325
- Views 126
- Downloads 0
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