ABSTRACT
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.
LIST OF ABBREVIATIONS
- ACC
- Augmentative and Alternative Communication
- ASD
- Autism Spectrum Disorder
- CA
- chronological age.
- CGH
- comparative genomic hybridization
- CNVs
- copy number variants
- DA
- developmental age
- dbSNP
- The Short Genetic Variations database (https://www.ncbi.nlm.n)
- EEG
- electroencephalography
- ExAC
- The Exome Aggregation Consortium (http://exac.broadinstitute.org/)
- FISH
- fluorescence in situ hybridization
- HGMD
- The Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php)
- LOVD
- Leiden Open Variation Database (http://www.lovd.nl/3.0/home)
- M-CHAT
- Modified Checklist for Autism in Toddlers
- MRI
- magnetic resonance imaging
- NHLBI ESP
- the National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project (ESP) (http://evs.gs.washington.edu/EVS/)
- PCR
- polymerase chain reaction
- WES
- Whole-Exome Sequencing