Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review.

Autor:	Ghasemi MR; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Tehrani Fateh S; School of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Sheikhi Nooshabadi M; School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Alijanpour S; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Mardi A; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Jazyk:	angličtina
Zdroj:	Epilepsy & behavior reports [Epilepsy Behav Rep] 2024 Jul 30; Vol. 27, pp. 100702. Date of Electronic Publication: 2024 Jul 30 (Print Publication: 2024).
DOI:	10.1016/j.ebr.2024.100702
Abstrakt:	The BRAT1 gene plays a crucial role in RNA metabolism and brain development, and mutations in this gene have been associated with neurodevelopmental disorders. The variability in the clinical presentation of BRAT1 -related disorders is highlighted, emphasizing the importance of considering this condition in the differential diagnosis of neurodevelopmental disorders. This study aimed to identify a causative variant in an Iranian patient affected by developmental delay, speech delay, seizure, and clubfoot through whole exome sequencing (WES) followed by Sanger sequencing. The WES revealed a novel biallelic variant of the BRAT1 , c.398A>G (p.His133Arg), in the patient, which segregated within the family. A literature review suggests that the phenotypic variability associated with BRAT1 mutations is likely due to multiple factors, including the location and type of mutation, the specific functions of the protein, and the influence of other genetic and environmental factors. The phenotypic variability of BRAT1- related disorders underscores the importance of considering BRAT1 -related disorders in the differential diagnosis of epileptic encephalopathy with rigidity. These findings provide important insights into the role of BRAT1 in neurodevelopmental disorders and highlight the potential clinical implications of identifying and characterizing novel variants in this gene. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2024 The Authors.)
Databáze:	MEDLINE
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