Interstitial 7q31.1 Copy Number Variations Disrupting IMMP2L Gene Are Associated with a Wide Spectrum of Neurodevelopmental Disorders

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2014 Dec 6

PMID 25478008

Citations 16

Authors

Stefania Gimelli

Valeria Capra

Maja Di Rocco

Massimiliano Leoni

Marisol Mirabelli-Badenier

Maria Cristina Schiaffino

Patrizia Fiorio

Cristina Cuoco

Giorgio Gimelli

Elisa Tassano

Affiliations

Soon will be listed here.

Abstract

Background: Since the introduction of the array-CGH technique in the diagnostic workup of mental retardation, new recurrent copy number variations and novel microdeletion/microduplication syndromes were identified. These findings suggest that some genomic disorders have high penetrance but a wide range of phenotypic severity.

Results: We present the clinical and molecular description of four unrelated patients affected by neurodevelopmental disorders and overlapping 7q31.1 microdeletion/microduplication, identified by array-CGH and involving only part of the IMMP2L gene.

Conclusion: IMMP2L encodes an inner mitochondrial membrane protease-like protein, which is required for processing of cytochromes inside mitochondria. Numerous studies reported that this gene is implicated in behavioural disorders such as autistic spectrum disorders, attention-deficit hyperactivity disorders, and Gilles de la Tourette syndrome. We discuss the functions of the gene suggesting that IMMP2L may act as risk factor for neurological disease.

Citing Articles

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Immp2l Mutation Induces Mitochondrial Membrane Depolarization and Complex III Activity Suppression after Middle Cerebral Artery Occlusion in Mice.

Ma Y, Liang R, Ma N, Mi X, Cheng Z, Zhang Z Curr Med Sci. 2023; 43(3):478-488.

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Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype.

Yoshikawa A, Kushima I, Miyashita M, Suzuki K, Iino K, Toriumi K PLoS One. 2022; 17(7):e0270506.

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Mitochondrial Processing Peptidases-Structure, Function and the Role in Human Diseases.

Kunova N, Havalova H, Ondrovicova G, Stojkovicova B, Bauer J, Bauerova-Hlinkova V Int J Mol Sci. 2022; 23(3).

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