prikaz prve stranice dokumenta Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis
  Download
PDF 938.15 KB
Scientific paper - Original scientific paper
Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis
Journal of Personalized Medicine, 14 (2024), 9; 901. https://doi.org/10.3390/jpm14090901
Ćuk, Mario; Unal, Busra; Jandric, Nives; Hayes, Connor P.; Walker, McKenzie; Abraamyan, Feruza; Crkvenac Gornik, Kristina; Ghazani, Arezou A.

Cite this document

Ćuk, M., Unal, B., Jandric, N., Hayes, C. P., Walker, M., Abraamyan, F. ... Ghazani, A. A. (2024). Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis. Journal of Personalized Medicine, 14. (9). doi: 10.3390/jpm14090901

Ćuk, Mario, et al. "Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis." Journal of Personalized Medicine, vol. 14, no. 9, 2024. https://doi.org/10.3390/jpm14090901

Ćuk, Mario, Busra Unal, Nives Jandric, Connor P. Hayes, McKenzie Walker, Feruza Abraamyan, Kristina Crkvenac Gornik and Arezou A. Ghazani. "Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis." Journal of Personalized Medicine 14, no. 9 (2024). https://doi.org/10.3390/jpm14090901

Ćuk, M., et al. (2024) 'Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis', Journal of Personalized Medicine, 14(9). doi: 10.3390/jpm14090901

Ćuk M, Unal B, Jandric N, Hayes CP, Walker M, Abraamyan F, and sur.. Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis. Journal of Personalized Medicine [Internet]. 2024 August 25 [cited 2025 March 22];14(9). doi: 10.3390/jpm14090901

M. Ćuk, et al., "Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis", Journal of Personalized Medicine, vol. 14, no. 9, August 2024. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:317273. [Accessed: 22 March 2025]

Please login to the repository to save this object to your list.
Metadata
Title (english)Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis
AuthorMario Ćuk
AuthorBusra Unal
AuthorNives Jandric
AuthorConnor P. Hayes
AuthorMcKenzie Walker
AuthorFeruza Abraamyan
AuthorKristina Crkvenac Gornik
AuthorArezou A. Ghazani
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
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 RAI1 have also been reported in 5–10% of cases. In this study, we report a 9-year-old male with global cognitive and psychomotor developmental delay, musculoskeletal and cardiovascular abnormalities, and dysmorphic craniofacial features. Joint analysis was performed on the whole-genome sequencing data obtained from the proband, unaffected parents, and unaffected brother. This quad analysis identified the novel de novo RAI1:c.2736delC variant. This is the first report of this variant in the literature. This report highlights the details of genome analysis and the patient’s phenotypic spectrum.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleJournal of Personalized Medicine
Numberingvol. 14, no. 9, 901
e-ISSN2075-4426
DOIhttps://doi.org/10.3390/jpm14090901
URN:NBNurn:nbn:hr:105:317273
Publication2024-08-25
Document URLhttps://www.mdpi.com/2075-4426/14/9/901
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2025-03-19 15:20:23