%0 Journal Article %A Ma Salud Jiménez-Romero %A Pilar Carrasco-Salas %A Antonio Benítez-Burraco %T Language and cognitive impairment associated to a novel p.Cys63Arg change in the MED13L gene %D 2017 %R 10.1101/151688 %J bioRxiv %P 151688 %X Mutations of the MED13L gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep language impairment has been reported, mostly in patients with CNV. Case presentation. We report on a child who presents with a non-synonymous change p.Cys63Arg in MED13L (Chr12:116675396A>G, GRCh37) and who exhibits profound language impairment in the expressive domain, cognitive delay, behavioral disturbances, and some autistic features. Conclusions. Because of the brain areas in which MED13L is expressed and because of the functional links between MED13L and the products of some candidate genes for language disorders, the proband’s linguistic phenotype may result from changes in a functional network important for language development.ACCAugmentative and Alternative CommunicationASDAutism Spectrum DisorderCAchronological age.CGHcomparative genomic hybridizationCNVscopy number variantsDAdevelopmental agedbSNPThe Short Genetic Variations database (https://www.ncbi.nlm.n)EEGelectroencephalographyExACThe Exome Aggregation Consortium (http://exac.broadinstitute.org/)FISHfluorescence in situ hybridizationHGMDThe Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php)LOVDLeiden Open Variation Database (http://www.lovd.nl/3.0/home)M-CHATModified Checklist for Autism in ToddlersMRImagnetic resonance imagingNHLBI ESPthe National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project (ESP) (http://evs.gs.washington.edu/EVS/)PCRpolymerase chain reactionWESWhole-Exome Sequencing %U https://www.biorxiv.org/content/biorxiv/early/2017/06/18/151688.full.pdf