Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran
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 re...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Negah Institute for Scientific Communication
2018-09-01
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| Series: | Iranian Rehabilitation Journal |
| Subjects: | |
| Online Access: | http://irj.uswr.ac.ir/browse.php?a_code=A-10-770-1&slc_lang=en&sid=1 |
| Summary: | 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. |
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| ISSN: | 1735-3602 1735-3610 |