A novelde novoframeshift deletion inEHMT1in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation-Reference-Cited by-同舟云学术

A novelde novoframeshift deletion inEHMT1in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

Published:2017-01-26 Issue:2 Volume:5 Page:141-146
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Blackburn Patrick R.¹²^ORCID,Williams Monique³,Cousin Margot A.⁴⁵,Boczek Nicole J.⁴⁵,Beek Geoffrey J.⁴⁶,Lomberk Gwen A.⁷⁸,Urrutia Raul A.⁷⁸,Babovic-Vuksanovic Dusica⁴⁶⁹,Klee Eric W.⁴⁵⁶⁹

Affiliation:

1. Center for Individualized Medicine; Mayo Clinic; Jacksonville Florida 32224

2. Department of Health Science Research; Mayo Clinic; Jacksonville Florida 32224

3. Department of Biochemistry and Molecular Biology; Mayo Clinic; Rochester Minnesota 55901

4. Center for Individualized Medicine; Mayo Clinic; Rochester Minnesota 55901

5. Department of Health Science Research; Mayo Clinic; Rochester Minnesota 55901

6. Department of Clinical Genomics; Mayo Clinic; Rochester Minnesota 55901

7. Laboratory of Epigenetics and Chromatin Dynamics; Mayo Clinic; Rochester Minnesota 55901

8. Division of Gastroenterology and Hepatology; Mayo Clinic; Rochester Minnesota 55901

9. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota 55901

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference10 articles.

1. Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome;Balemans;Hum. Mol. Genet.,2013

2. Histone methylation by the Kleefstra Syndrome protein EHMT1 mediates homeostatic synaptic scaling;Benevento;Neuron,2016

3. Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome;He;Neurol. Genet.,2016

4. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing;Jiang;Am. J. Hum. Genet.,2013

5. Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome;Kleefstra;Am. J. Human Genet.,2006

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