Version 1
: Received: 24 July 2024 / Approved: 25 July 2024 / Online: 26 July 2024 (11:45:07 CEST)
How to cite:
Cuk, M.; Unal, B.; Jandric, N.; Hayes, C. P.; Walker, M.; Crkvenac Gornik, K.; Abraamyan, F.; Ghazani, A. A. Novel De Novo RAI1:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint Analysis. Preprints2024, 2024072052. https://doi.org/10.20944/preprints202407.2052.v1
Cuk, M.; Unal, B.; Jandric, N.; Hayes, C. P.; Walker, M.; Crkvenac Gornik, K.; Abraamyan, F.; Ghazani, A. A. Novel De Novo RAI1:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint Analysis. Preprints 2024, 2024072052. https://doi.org/10.20944/preprints202407.2052.v1
Cuk, M.; Unal, B.; Jandric, N.; Hayes, C. P.; Walker, M.; Crkvenac Gornik, K.; Abraamyan, F.; Ghazani, A. A. Novel De Novo RAI1:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint Analysis. Preprints2024, 2024072052. https://doi.org/10.20944/preprints202407.2052.v1
APA Style
Cuk, M., Unal, B., Jandric, N., Hayes, C. P., Walker, M., Crkvenac Gornik, K., Abraamyan, F., & Ghazani, A. A. (2024). Novel <em>De Novo RAI1</em>:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint Analysis. Preprints. https://doi.org/10.20944/preprints202407.2052.v1
Chicago/Turabian Style
Cuk, M., Feruza Abraamyan and Arezou A. Ghazani. 2024 "Novel <em>De Novo RAI1</em>:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint Analysis" Preprints. https://doi.org/10.20944/preprints202407.2052.v1
Abstract
Smith-Magenis syndrome is a complex neurobehavioral genetic disorder. The spectrum of SMS phenotype is broad but commonly includes craniofacial, neurobehavioral, and otolaryngologic features. 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. The phenotypic spectrum of patients with RAI1 sequence alterations is not clear. 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. Whole genome quad analysis of the proband, unaffected parent, and unaffected brother identified a novel de novo RAI1:c.2736delC variant. This is the first report of this variant in the literature. This report also highlights the details of the genome analysis and this patient's phenotypic spectrum.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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