Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

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. We report...

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Bibliographic Details
Published in:Molecular cytogenetics 2014-10, Vol.7 (1), p.74-74, Article 74
Main Authors: Schwaibold, Eva Maria Christina, Smogavec, Mateja, Hobbiebrunken, Elke, Winter, Lorenz, Zoll, Barbara, Burfeind, Peter, Brockmann, Knut, Pauli, Silke
Format: Article
Language:English
Subjects:
Case Report
Case studies
Codon
Comparative analysis
Genetic research
Instrument industry
Lysine
Methyltransferases
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Summary: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. 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. This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.
ISSN:1755-8166
1755-8166
DOI:10.1186/s13039-014-0074-7