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

2024, Vol: 7, Issue: 1

7 / 1Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles

Required files to be uploaded

Title Page

« Previous Article

Case Report
Online Published: 05 Feb 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.

	ARTICLE TOOLS
	Abstract
	PDF Fulltext
	HTML Fulltext
	How to cite this article
	Citation Tools
	Related Records
	Articles by Ines Ben Abdallah Bouhjar Articles by Ibrahim Tabarki Articles by Hamoud Alonazi Articles by Mishal Alsulami Articles by Amal Alhashem Articles by Hatem Elghezal
	on Google
	on Google Scholar

How to Cite this Article

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: November 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 November 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

Most Viewed Articles

Most Accessed Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389

The role of C-terminal tensin-like (Cten) gene in cancer metastasis
Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
JBCGenetics. 2018; 1(1): 2-9
» Abstract » doi: 10.24911/JBCGenetics/183-1531548689

Clinical reassessment of post-laboratory variant call format (VCF) files
Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
JBCGenetics. 2018; 1(1): 31-36
» Abstract » doi: 10.24911/JBCGenetics/183-1529928114

Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
JBCGenetics. 2018; 1(1): 37-39
» Abstract » doi: 10.24911/JBCGenetics/183-1530040885

Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
JBCGenetics. 2018; 1(1): 40-42
» Abstract » doi: 10.24911/JBCGenetics/183-1531469195

Most Downloaded

Top Downloaded Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
JBCGenetics. 2019; 2(1): 28-39
» Abstract » doi: 10.24911/JBCGenetics/183-1542047633

Syndactyly genes and classification: a mini review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
JBCGenetics. 2018; 1(1): 10-18
» Abstract » doi: 10.24911/JBCGenetics/183-1532177257

Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
JBCGenetics. 2021; 4(1): 27-34
» Abstract » doi: 10.24911/JBCGenetics/183-1601264923

Most Cited Articles

Most Cited Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389
Cited : 4 times [Click to see citing articles]

Genomics in Saudi Arabia Call for Data-Sharing Policy
Ahmed Alfares,
JBCGenetics. 2018; 1(2): 51-52
» Abstract » doi: 10.24911/JBCGenetics/183-1546945268
Cited : 4 times [Click to see citing articles]

Harel-Yoon syndrome: the first case report from Saudi Arabia
Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
JBCGenetics. 2020; 3(1): 22-27
» Abstract » doi: 10.24911/JBCGenetics/183-1585816398
Cited : 2 times [Click to see citing articles]

About Journal of Biochemical and Clinical Genetics

The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open access medical journal. Owner: Saudi Society of Medical ... Read more.

For best results, please use Internet Explorer or Google Chrome.

Contact Information

Title Owner: Saudi Society of Medical Genetics

https://ssmg.org.sa/en

Society Email: info@ssmg.org.sa

Editor in Chief: dralfadhelm@jbcgenetics.com

Contact the publisher:

contact@discoverpublish.com
https://discoverpublish.com/

Publisher: Discover STM Publishing Ltd,

82 Leslie's Arch, Old Quarter, Ballincollig, Cork, P31 RY62, Ireland.

Hours: M-F: 8:30am - 5:30pm

Contact Emails:

Journal Editorial Office: contact@jbcgenetics.com

Billing Support: contact@discoverpublish.com

Technical Support:
anastasiia.pavlenco@sofiafields.com
https://sofiafields.com/

POLICIES & JOURNAL LINKS

About Journal of Biochemical and Clinical Genetics

Contact Information

How to cite this article