Abstract

The inner mitochondrial membrane peptidase subunit 2-like protein, the IMMP2L gene in 7q31.1, have been associated with different neurodevelopmental disorders, including autism spectrum disorders, attention deficit/hyperactivity disorder and Gilles de la Tourette’s syndrome (GTS).
Since the use of comparative genomic hybridization as essential tool in the diagnostic workup of neurodevelopmental disorders, recurrent microdeletions CNV’s were identified in IMMP2L gene.
We report here a 3 years old girl presenting since early life with complex motor tics, developmental delay, and other various cognitive/behavioral disturbances. Array CGH analysis showed a 331 Kb de novo pathogenic heterozygous deletion at 7q31.1 into the IMMP2L gene, involving exons 1 to 3.
We discuss the functions of IMMP2L gene suggesting that his disruption may act as high-risk factor for neurodevelopmental disorders and movement disorders.

Key words: IMMP2L gene; deletion 7q31.1; microdeletion; neurodevelopmental disorder.