Further confirmation of the MED13L haploinsufficiency syndrome.
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.
Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Mieke M
MM
van Haelst
Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Glen R
GR
Monroe
Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Karen
K
Duran
Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Ellen
E
van Binsbergen
Department of Paediatric Cardiology, University Medical Centre Utrecht, Utrecht, The Netherlands.
Johannes M
JM
Breur
Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Jacques C
JC
Giltay
Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Gijs
G
van Haaften
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D017398:Alternative Splicing; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D059472:Exome; D019066:Facies; D005260:Female; D057895:Haploinsufficiency / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D008297:Male; D056892:Mediator Complex / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D013577:Syndrome
C480067:MED13L protein, human; D056892:Mediator Complex