Is MED13L-related intellectual disability a recognizable syndrome?

Pernille Mathiesen Tørring*, Martin Jakob Larsen, Charlotte Brasch-Andersen, Lotte Nylandsted Krogh, Maria Kibæk, Lone Laulund, Niels Illum, Ulrike Dunkhase-Heinl, Antje Wiesener, Bernt Popp, Giuseppe Marangi, Tina Duelund Hjortshøj, Jakob Ek, Ida Vogel, Naja Becher, Laura Roos, Marcella Zollino, Christina Ringmann Fagerberg

*Corresponding author for this work

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Introduction: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the literature for phenotypical and genetic aspects of previously described patients. Materials and methods: In the search for genetic aberrations in individuals with ID, two of the patients were identified by chromosomal microarray analysis, and five by exome sequencing. One of the individuals, suspected of MED13L-related intellectual disability, based on clinical features, was identified by Sanger sequencing. Results: All 8 individuals had de novo MED13L aberrations, including two intragenic microdeletions, two frameshift, three nonsense variants, and one missense variant. Phenotypically, they all had intellectual disability, speech and motor delay, and features of the mouth (open mouth appearance, macroglossia, and/or macrostomia). Two individuals were diagnosed with autism, and one had autistic features. One had complex congenital heart defect, and one had persistent foramen ovale. The literature was reviewed with respect to clinical and dysmorphic features, and genetic aberrations. Conclusions: Even if most clinical features of MED13L-related intellectual disability are rather non-specific, the syndrome may be suspected in some individuals based on the association of developmental delay, speech impairment, bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance.

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Issue number2
Pages (from-to)129-136
Publication statusPublished - Feb 2019


  • Developmental delay
  • Intellectual disability
  • MED13L
  • MED13L haploinsufficiency syndrome
  • MED13L-related intellectual disability


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