The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981∗)

Mateusz Dawidziuk, Anna Kutkowska-Kazmierczak, Paweł Gawliński, Wojciech Wiszniewski, Monika Gos, Piotr Stawiński, Małgorzata Rydzanicz, Joanna Kosińska, Paweł Własienko, Olga Malinowska Kordowska, Magdalena Bartnik-Głaska, Joanna Bernaciak, Krzysztof Szczałuba, Monika Bekiesińska-Figatowska, Rafał Płoski, Jerzy Bal, Sylwia Olimpia Rzońca-Niewczas

Research output: Contribution to journalArticlepeer-review

Abstract

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 dysmorphism. Uncommon findings like lack of speech, strabismus and self-destructive behaviour present in our patient allowed us to further define the phenotypic spectrum of mental retardation and distinctive facial features with or without cardiac defects syndrome.

Original languageEnglish (US)
Pages (from-to)32-35
Number of pages4
JournalJournal of mother and child
Volume24
Issue number3
DOIs
StatePublished - Apr 30 2021

Keywords

  • haploinsufficiency
  • intellectual disability
  • loss-of-function mutation
  • MED13L

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology
  • Maternity and Midwifery

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