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. 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. Conclusions: This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.
CITATION STYLE
Schwaibold, E. M. C., Smogavec, M., Hobbiebrunken, E., Winter, L., Zoll, B., Burfeind, P., … Pauli, S. (2014). Intragenic duplication of EHMT1 gene results in Kleefstra syndrome. Molecular Cytogenetics, 7(1). https://doi.org/10.1186/s13039-014-0074-7
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