Related Experiment Video
Updated: Nov 28, 2025
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Could the MED13 mutations manifest as a Kabuki-like syndrome?
Laura De Nardi1, Flavio Faletra2, Adamo Pio D'Adamo1,2
1University of Trieste, Trieste, Italy.
Abstract:
MED13-related disorder is a new neurodevelopmental disorder recently described in literature, which belongs to the group of CDK8-kinase module genes-associated conditions. It is characterized by variable intellectual disability and/or developmental delays, especially in language. Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), eye or vision problems, hypotonia, mild congenital hearth abnormalities and dysmorphisms have been described among individuals with MED13 mutations. We report the case of a 13-year-old girl who received a previous clinical diagnosis of Kabuki syndrome (KS) without mutations in classic KS genes. After a whole exome sequencing (WES) analysis a de novo missense mutation in MED13 (c.C979T; p.Pro327Ser) was found. This variant has been once described in literature as accountable for a novel neurodevelopmental disorder. The aim of this report is to improve clinical delineation of MED13-related condition and to explore differences and similarities between KS spectrum and MED13-related disorders.
Insights
MED13-related disorder, a novel neurodevelopmental condition, is linked to CDK8-kinase gene mutations. This case report details a patient diagnosed with MED13 mutations, aiding in better understanding this disorder.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Molecular Biology
Background:
- MED13-related disorder is a recently identified neurodevelopmental condition associated with CDK8-kinase module genes.
- It presents with variable intellectual disability, developmental delays (especially language), and other features like ASD, ADHD, and dysmorphisms.
Observation:
- A 13-year-old girl initially diagnosed with Kabuki syndrome (KS) without typical KS gene mutations was studied.
- Whole exome sequencing revealed a de novo missense mutation in the MED13 gene (c.C979T; p.Pro327Ser).
Findings:
- The identified MED13 mutation (p.Pro327Ser) has been previously linked to a novel neurodevelopmental disorder.
- This case reinforces the association between MED13 mutations and a distinct clinical phenotype.
Implications:
- This report aims to enhance the clinical understanding and delineation of MED13-related disorder.
- Further research is needed to explore the similarities and differences between MED13-related disorders and the Kabuki syndrome spectrum.
More Related Videos
Related Concept Videos
01:39Mutations
01:35Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
01:33Pleiotropy
02:18Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
01:31Translation
Translation Produces the Building Blocks of Life
Proteins are...
01:31Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...