J Pediatr Genet 2020; 09(04): 279-284
DOI: 10.1055/s-0039-1700965
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Smith–Magenis Syndrome: Clues in the Clinic

Nejmiye Akkus
1  Department of Medical Genetics, Health Sciences University Derince Training and Research Hospital, Kocaeli, Turkey
,
Betul Kilic
2  Department of Pediatric Neurology, Medipol University Hospital, Istanbul, Turkey
,
Pelin Ozyavuz Cubuk
3  Department of Medical Genetics, Ministry of Health Haseki Education Research Hospital, Istanbul, Turkey
› Author Affiliations
Further Information

Publication History

01 January 2019

22 November 2019

Publication Date:
06 January 2020 (online)

Abstract

As a multisystemic congenital mental retardation disorder/anomaly, Smith–Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficiency for the retinoic acid-induced 1 (RAI1) gene. In this article, we present three cases, who were diagnosed with SMS with mental retardation and behavioral problems such as self-hugging and sleeping disturbances. During the evaluation of the patients, it has been found that there was a 3.4-Mb deletion in the 17p11.2 chromosome region of these patients. This deletion includes RAI1 that is a critically involved gene in SMS.

Informed Consent

Informed consent form was received from the families of all the patients for the presentation of the case reports.