Preprint Brief Report Version 1 Preserved in Portico This version is not peer-reviewed

Novel De Novo RAI1:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint Analysis

Mario Cuk
,
Busra Unal
ORCID logo ,
Nives Jandric
,
Connor P. Hayes
,
McKenzie Walker
,
Kristina Crkvenac Gornik
,
Feruza Abraamyan
,
Arezou A. Ghazani
* ORCID logo
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. 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. Preprints 2024, 2024072052. 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.

Keywords

Smith-Magenis syndrome; retinoic acid-induced 1 protein; neurodevelopmental disorders; joint whole genome sequencing analysis  

Subject

Biology and Life Sciences, Other

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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