Article
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
Journal of mother and child - 30 Apr 2021
Dawidziuk Mateusz, Kutkowska-Kaźmierczak Anna, Gawliński Paweł, Wiszniewski Wojciech, Gos Monika, Stawiński Piotr, Rydzanicz Małgorzata, Kosińska Joanna, Własienko Paweł, Malinowska Kordowska Olga, Bartnik-Głaska Magdalena, Bernaciak Joanna, Szczałuba Krzysztof, Bekiesińska-Figatowska Monika, Płoski Rafał, Bal Jerzy, Olimpia Rzońca-Niewczas Sylwia
Abstract excerpt
The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disability. In this work, we report a patient with a novel de novo likely pathogenic variant c.5941C>T, p.(Gln1981*) in the MED13L gene with severe intellectual disability and facial...
Topics
- Abnormalities, Multiple
- Child
- Genetic Variation
- Haploinsufficiency
- Humans
- Intellectual Disability
- Loss of Function Mutation
- Male
- Mediator Complex