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


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.

SUBMITTER: Gimelli S 

PROVIDER: S-EPMC4255718 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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

Gimelli Stefania S   Capra Valeria V   Di Rocco Maja M   Leoni Massimiliano M   Mirabelli-Badenier Marisol M   Schiaffino Maria Cristina MC   Fiorio Patrizia P   Cuoco Cristina C   Gimelli Giorgio G   Tassano Elisa E  

Molecular cytogenetics 20140813


<h4>Background</h4>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.<h4>Results</h4>We present the clinical and molecular description of four unrelated patients affected by neurodevelopmental disorders and overlapping 7q31.1 microdele  ...[more]

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