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

Stefania Gimelli, Valeria Capra, Maja Di Rocco, Massimiliano Leoni, Marisol Mirabelli-Badenier, Maria Cristina Schiaffino, Patrizia Fiorio, Cristina Cuoco, Giorgio Gimelli, Elisa Tassano

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number54
JournalMolecular Cytogenetics
Volume7
Issue number1
DOIs
Publication statusPublished - Aug 13 2014

Keywords

  • Array-CGH
  • Copy number variation
  • IMMP2L
  • Neurodevelopmental disorders

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Biochemistry
  • Molecular Medicine
  • Biochemistry, medical

Fingerprint Dive into the research topics of 'Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders'. Together they form a unique fingerprint.

Cite this