Further confirmation of the MED13L haploinsufficiency syndrome

Mieke M van Haelst, Glen R Monroe, Karen Duran, Ellen van Binsbergen, Johannes M Breur, Jacques C Giltay, Gijs van Haaften

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MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (ID), conotruncal heart defects, facial abnormalities and hypotonia. Missense mutations in MED13L are linked to transposition of the great arteries and non-syndromal intellectual disability. Here we describe two novel patients with de novo MED13L aberrations. The first patient has a de novo mutation in the splice acceptor site of exon 5 of MED13L. cDNA analysis showed this mutation results in an in-frame deletion, removing 15 amino acids in middle of the conserved MED13L N-terminal domain. The second patient carries a de novo deletion of exons 6-20 of MED13L. Both patients show features of the MED13L haploinsufficiency syndrome, except for the heart defects, thus further confirming the existence of the MED13L haploinsufficiency syndrome.

Original languageEnglish
Pages (from-to)135-8
Number of pages4
JournalEuropean journal of human genetics
Issue number1
Publication statusPublished - Jan 2015


  • Abnormalities, Multiple/diagnosis
  • Alternative Splicing
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Exome
  • Facies
  • Female
  • Haploinsufficiency/genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant
  • Male
  • Mediator Complex/genetics
  • Mutation
  • Phenotype
  • Syndrome

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