Case Report
Volume: 6 | Issue: 2 | Published: Feb 05, 2024 | Pages: 153 - 158 | DOI: 10.24911/JBCGenetics/183-1672039791
Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.
Authors: Ines Ben Abdallah Bouhjar , Ibrahim Tabarki , Hamoud Alonazi , Mishal Alsulami , Amal Alhashem , Hatem Elghezal
Article Info
Authors
Ines Ben Abdallah Bouhjar
Cytogenetics and Molecular Genetics Laboratory, Central Military Laboratory and Blood Bank, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Ibrahim Tabarki
Pediatric Genetics and Metabolic Medicine Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Hamoud Alonazi
Cytogenetics and Molecular Genetics Laboratory, Central Military Laboratory and Blood Bank, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Mishal Alsulami
Cytogenetics and Molecular Genetics Laboratory, Central Military Laboratory and Blood Bank, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Amal Alhashem
Cytogenetics and Molecular Genetics Laboratory, Central Military Laboratory and Blood Bank, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
Hatem Elghezal
Cytogenetics and Molecular Genetics Laboratory, Central Military Laboratory and Blood Bank, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Publication History
Received: December 26, 2022
Revised: April 07, 2023
Accepted: August 07, 2023
Published: February 05, 2024
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.
Keywords: IMMP2L gene, deletion 7q31.1, microdeletion, neurodevelopmental disorder
