Association of IMMP2L  deletion with neurodevelopmental disorders: new case report and review of the literature.

Ines Ben Abdallah Bouhjar; Ibrahim Tabarki; Hamoud Alonazi; Mishal Alsulami; Amal Alhashem; Hatem Elghezal

doi:10.24911/JBCGenetics/183-1672039791

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Case Report

Online Publishing Date:
05 / 02 / 2024

JBCGenetics. 2023; 6(2): 153-158

doi: 10.24911/JBCGenetics/183-1672039791

Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.

Ines Ben Abdallah Bouhjar, Ibrahim Tabarki, Hamoud Alonazi, Mishal Alsulami, Amal Alhashem, Hatem Elghezal.

Abstract
The inner mitochondrial membrane peptidase subunit 2-like protein, the IMMP2L gene in 7q31.1, have been associated with different neurodevelopmental disorders, including autism spectrum disorders, attention deficit/hyperactivity disorder and Gilles de la Tourette’s syndrome (GTS).
Since the use of comparative genomic hybridization as essential tool in the diagnostic workup of neurodevelopmental disorders, recurrent microdeletions CNV’s were identified in IMMP2L gene.
We report here a 3 years old girl presenting since early life with complex motor tics, developmental delay, and other various cognitive/behavioral disturbances. Array CGH analysis showed a 331 Kb de novo pathogenic heterozygous deletion at 7q31.1 into the IMMP2L gene, involving exons 1 to 3.
We discuss the functions of IMMP2L gene suggesting that his disruption may act as high-risk factor for neurodevelopmental disorders and movement disorders.

Key words: IMMP2L gene; deletion 7q31.1; microdeletion; neurodevelopmental disorder.

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Pubmed Style

Bouhjar IBA, Tabarki I, Alonazi H, Alsulami M, Alhashem A, Elghezal H. Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.. JBCGenetics. 2023; 6(2): 153-158. doi:10.24911/JBCGenetics/183-1672039791

Web Style

Bouhjar IBA, Tabarki I, Alonazi H, Alsulami M, Alhashem A, Elghezal H. Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.. https://www.jbcgenetics.com/?mno=134094 [Access: March 14, 2024]. doi:10.24911/JBCGenetics/183-1672039791

AMA (American Medical Association) Style

Bouhjar IBA, Tabarki I, Alonazi H, Alsulami M, Alhashem A, Elghezal H. Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.. JBCGenetics. 2023; 6(2): 153-158. doi:10.24911/JBCGenetics/183-1672039791

Vancouver/ICMJE Style

Bouhjar IBA, Tabarki I, Alonazi H, Alsulami M, Alhashem A, Elghezal H. Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.. JBCGenetics. (2023), [cited March 14, 2024]; 6(2): 153-158. doi:10.24911/JBCGenetics/183-1672039791

Harvard Style

Bouhjar, I. B. A., Tabarki, . I., Alonazi, . H., Alsulami, . M., Alhashem, . A. & Elghezal, . H. (2023) Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.. JBCGenetics, 6 (2), 153-158. doi:10.24911/JBCGenetics/183-1672039791

Turabian Style

Bouhjar, Ines Ben Abdallah, Ibrahim Tabarki, Hamoud Alonazi, Mishal Alsulami, Amal Alhashem, and Hatem Elghezal. 2023. Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.. Journal of Biochemical and Clinical Genetics, 6 (2), 153-158. doi:10.24911/JBCGenetics/183-1672039791

Chicago Style

Bouhjar, Ines Ben Abdallah, Ibrahim Tabarki, Hamoud Alonazi, Mishal Alsulami, Amal Alhashem, and Hatem Elghezal. "Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.." Journal of Biochemical and Clinical Genetics 6 (2023), 153-158. doi:10.24911/JBCGenetics/183-1672039791

MLA (The Modern Language Association) Style

Bouhjar, Ines Ben Abdallah, Ibrahim Tabarki, Hamoud Alonazi, Mishal Alsulami, Amal Alhashem, and Hatem Elghezal. "Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.." Journal of Biochemical and Clinical Genetics 6.2 (2023), 153-158. Print. doi:10.24911/JBCGenetics/183-1672039791

APA (American Psychological Association) Style

Bouhjar, I. B. A., Tabarki, . I., Alonazi, . H., Alsulami, . M., Alhashem, . A. & Elghezal, . H. (2023) Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.. Journal of Biochemical and Clinical Genetics, 6 (2), 153-158. doi:10.24911/JBCGenetics/183-1672039791

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