Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

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...

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Autores principales: Schwaibold, Eva Maria Christina, Smogavec, Mateja, Hobbiebrunken, Elke, Winter, Lorenz, Zoll, Barbara, Burfeind, Peter, Brockmann, Knut, Pauli, Silke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209064/
https://www.ncbi.nlm.nih.gov/pubmed/25349628
http://dx.doi.org/10.1186/s13039-014-0074-7
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author Schwaibold, Eva Maria Christina
Smogavec, Mateja
Hobbiebrunken, Elke
Winter, Lorenz
Zoll, Barbara
Burfeind, Peter
Brockmann, Knut
Pauli, Silke
author_facet Schwaibold, Eva Maria Christina
Smogavec, Mateja
Hobbiebrunken, Elke
Winter, Lorenz
Zoll, Barbara
Burfeind, Peter
Brockmann, Knut
Pauli, Silke
author_sort Schwaibold, Eva Maria Christina
collection PubMed
description 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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spelling pubmed-42090642014-10-28 Intragenic duplication of EHMT1 gene results in Kleefstra syndrome Schwaibold, Eva Maria Christina Smogavec, Mateja Hobbiebrunken, Elke Winter, Lorenz Zoll, Barbara Burfeind, Peter Brockmann, Knut Pauli, Silke Mol Cytogenet Case Report 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. BioMed Central 2014-10-23 /pmc/articles/PMC4209064/ /pubmed/25349628 http://dx.doi.org/10.1186/s13039-014-0074-7 Text en © Schwaibold et al.; licensee BioMed Central Ltd. 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Schwaibold, Eva Maria Christina
Smogavec, Mateja
Hobbiebrunken, Elke
Winter, Lorenz
Zoll, Barbara
Burfeind, Peter
Brockmann, Knut
Pauli, Silke
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
title Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
title_full Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
title_fullStr Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
title_full_unstemmed Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
title_short Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
title_sort intragenic duplication of ehmt1 gene results in kleefstra syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209064/
https://www.ncbi.nlm.nih.gov/pubmed/25349628
http://dx.doi.org/10.1186/s13039-014-0074-7
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