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August 25, 2024Journal of Personalized MedicineOpen Access

Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis

Mario Ćuk Busra Unal Nives Jandric Connor P. Hayes McKenzie Walker Feruza Abraamyan Kristina Crkvenac Gornik Arezou A. Ghazani

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Abstract

Smith-Magenis syndrome is a complex neurobehavioral genetic disorder with a broad phenotypic spectrum. While the etiology of SMS is commonly attributed to one-copy interstitial deletion in the 17p11.2 region (90-95% of cases), variants identified by sequence analysis in

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Ćuk et al. (2024) studied this question.

synapsesocial.com/papers/68e5b019b6db643587549701 https://doi.org/10.3390/jpm14090901

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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3Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and <scp>RAI1</scp> Variants in Smith–Magenis SyndromeOriginal Research · 2026
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