The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
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ABSTRACT:
SUBMITTER: Dawidziuk M
PROVIDER: S-EPMC8258838 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
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The <i>MED13L</i> haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
Dawidziuk Mateusz M Kutkowska-Kaźmierczak Anna A Gawliński Paweł P Wiszniewski Wojciech W Gos Monika M Stawiński Piotr P Rydzanicz Małgorzata M Kosińska Joanna J Własienko Paweł P Malinowska Kordowska Olga O Bartnik-Głaska Magdalena M Bernaciak Joanna J Szczałuba Krzysztof K Bekiesińska-Figatowska Monika M Płoski Rafał R Bal Jerzy J Olimpia Rzońca-Niewczas Sylwia S
Journal of mother and child 20210430 3
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 <i>de novo</i> likely pathogenic variant c.5941C>T, p.(Gln1981*) in the <i>MED13L</i> gene with severe intellectual disability and facial dysmorphism. Uncommon findings like lack of speech, strabismus and self ...[more]
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