Smith-magenis syndrome: A rare case report.
Rupam Sinha1, Harshvardhan Jha1, Debarati Deb1
1Department of Oral Medicine and Radiology, Haldia Institute of Dental Sciences and Research, Banbishnupur, Balughata Rd, West Bengal, India.
Journal of Family Medicine and Primary Care
|May 2, 2022
Summary
Smith-Magenis syndrome is a rare genetic disorder caused by a microdeletion on chromosome 17p11.2, affecting the RAI1 gene. This case report details a 7-year-old patient with this condition, including genetic analysis.
Area of Science:
- Genetics
- Molecular Biology
- Pediatrics
Background:
- Smith-Magenis syndrome (SMS) is a rare genetic disorder.
- It is characterized by developmental delays, intellectual disability, and distinctive behavioral and physical features.
- SMS is typically caused by a deletion in the short arm of chromosome 17 (17p11.2), affecting the Retinal Homeobox Gene A Interacting Protein 1 (RAI1).
Observation:
- This article reports on a 7-year-old patient diagnosed with Smith-Magenis syndrome.
- The patient presented with a complex set of symptoms consistent with the syndrome.
Findings:
- Genetic analysis confirmed a microdeletion at the 17p11.2 chromosomal region.
- The deletion encompasses the RAI1 gene, which is the primary genetic cause of Smith-Magenis syndrome.
- This finding supports the known genetic etiology of SMS.
Implications:
- This case highlights the importance of genetic analysis in diagnosing rare disorders like Smith-Magenis syndrome.
- Understanding the genetic basis of SMS aids in patient management and genetic counseling.
- Further research into RAI1 gene function may reveal therapeutic targets for SMS.
