Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Authors :: Schwaibold EM
Smogavec M
Hobbiebrunken E
Winter L
Zoll B
Burfeind P
Brockmann K
Pauli S
Source :: Molecular cytogenetics [Mol Cytogenet] 2014 Oct 23; Vol. 7 (1), pp. 74. Date of Electronic Publication: 2014 Oct 23 (Print Publication: 2014).
Publication Year :: 2014
Abstract: Background: Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34.<br />Results: We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1.<br />Conclusions: This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.