Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disordersReport as inadecuate




Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders - Download this document for free, or read online. Document in PDF available to download.

Molecular Cytogenetics

, 7:54

First Online: 13 August 2014Received: 09 May 2014Accepted: 25 July 2014

Abstract

BackgroundSince 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.

ResultsWe 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.

ConclusionIMMP2L 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.

KeywordsIMMP2L Neurodevelopmental disorders Copy number variation Array-CGH Electronic supplementary materialThe online version of this article doi:10.1186-s13039-014-0054-y contains supplementary material, which is available to authorized users.

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Author: Stefania Gimelli - Valeria Capra - Maja Di Rocco - Massimiliano Leoni - Marisol Mirabelli-Badenier - Maria Cristina Schiaff

Source: https://link.springer.com/



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