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- Title
Further confirmation of the MED13L haploinsufficiency syndrome.
- Authors
van Haelst, Mieke M; Monroe, Glen R; Duran, Karen; van Binsbergen, Ellen; Breur, Johannes M; Giltay, Jacques C; van Haaften, Gijs
- Abstract
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.
- Subjects
GENETIC disorders; SYNDROMES; INTELLECTUAL disabilities; HUMAN missense mutation; GENETICS; HEART abnormalities
- Publication
European Journal of Human Genetics, 2015, Vol 23, Issue 1, p135
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2014.69