Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. In this paper, we report on the clinical and cytogenetic features of two Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. Patient 1 (Smith-Magenis syndrome) was a 2.9-yr-old boy who showed mild dysmorphic features, aggressive behavioral problems, and developmental delay. Patient 2 (Potocki-Lupski syndrome), a 17-yr-old boy, had only intellectual disabilities and language developmental delay. We used array comparative genomic hybridization (array CGH) and found a 2.6 Mb-sized deletion and a reciprocal 2.1 Mb-sized duplication involving the 17p11.2. These regions overlapped in a 2.1 Mb size containing 11 common genes, including RAI1 and SREBF.
Department of Pediatric and Preventive Dentistry, AB Shetty Memorial Institute of Dental Sciences (ABSMIDS), NITTE (Deemed to be University), Deralakatte, Mangaluru, Karnataka, India.
Aim And Background: Smith-Magenis syndrome (SMS) is a rare condition characterized by abnormalities affecting chromosome 17 or RAI1, leading to physical, developmental, and behavioral challenges. SMS occurs in approximately 1 in 25,000 individuals, presenting complex clinical and dental issues.
Case Description: This case report focuses on the dental care of a 3-year-old child diagnosed with SMS, emphasizing a comprehensive treatment plan.
Smith-Magenis syndrome (SMS) is a genetic disorder characterized by intellectual disability, behavioral challenges, and distinctive physical abnormalities. This case report describes a patient with SMS who presented with pneumonia and was found to have chronic hypercapnic respiratory failure, attributed to kyphoscoliosis and obesity-related conditions such as obesity hypoventilation syndrome and obstructive sleep apnea. Following treatment with non-invasive ventilation (NIV), the patient's baseline oxygen levels improved, and she was discharged with domiciliary NIV and respiratory follow-up.
* The study used whole exome sequencing (WES) on a family from India to explore the genetic causes of ASDs in siblings displaying clinical features associated with Smith-Magenis syndrome (SMS).
* Two inherited variants were found that contribute to the SMS features in the siblings, demonstrating how WES can shed light on the genetic complexity of syndromic ASDs and inform understanding of both syndromic and idiopathic types of ASD.
Center for Biomedical Technology, Universidad Politécnica de Madrid, Madrid, Spain; Escuela Técnica Superior de Ingeniería Informática, Universidad Rey Juan Carlos, Madrid, Spain.
Unlabelled: The production of phonation involves very complex processes, linked to the physical, clinical, and emotional state of the speaker. Thus, in populations with neurological diseases, it is possible to find the imprint in the voice signal left by the deterioration of certain cortical areas or part of the neurocognitive mechanisms that are involved in speech. In previous works, the authors determined the relationship between the pathological characteristics of the voice of the speakers with Smith-Magenis syndrome (SMS) and a lower value in the cepstral peak prominence (CPP) with respect to normative speakers.
Gene therapy holds great therapeutic potential. Yet, controlling cargo expression in single cells is limited due to the variability of delivery methods. We implement an incoherent feedforward loop based on proteolytic cleavage of CRISPR-Cas activation or inhibition systems to reduce gene expression variability against the variability of vector delivery.
