title: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: Stefania
authors.initials: S
authors.lastname: Gimelli
authors.affiliation: U.O. Neurochirurgia, Istituto G.Gaslini, Genoa, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Capra
authors.affiliation: USD Malattie Rare, Istituto G Gaslini, Genoa, Italy.
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
authors.affiliation: Pediatria II, Istituto G Gaslini, Genoa, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Leoni
authors.affiliation: DINOMGI Dipartimento-Università di Genova; U.O. Neuropsichiatria infantile, Istituto G. Gaslini, Genoa, Italy.
authors.forename: Marisol
authors.initials: M
authors.lastname: Mirabelli-Badenier
authors.affiliation: Dipartimento di Pediatria, Istituto G Gaslini, Genoa, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Schiaffino
authors.affiliation: Laboratorio di Citogenetica, Istituto G. Gaslini, G.Gaslini 5, Genoa, 16147, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Fiorio
authors.affiliation: Laboratorio di Citogenetica, Istituto G. Gaslini, G.Gaslini 5, Genoa, 16147, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Cuoco
authors.affiliation: Laboratorio di Citogenetica, Istituto G. Gaslini, G.Gaslini 5, Genoa, 16147, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gimelli
authors.affiliation: Laboratorio di Citogenetica, Istituto G. Gaslini, G.Gaslini 5, Genoa, 16147, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
keywords: Array-CGH; Copy number variation; IMMP2L; Neurodevelopmental disorders