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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209064 | PMC |
| http://dx.doi.org/10.1186/s13039-014-0074-7 | DOI Listing |
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