Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
We previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern. Methylome analysis from peripheral blood samples of six affected subjects led us to identify a specific hypomethylated profile. This "episignature" was enriched for genes in...
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Veröffentlicht in: | Clinical epigenetics 2020-01, Vol.12 (1), p.7-7, Article 7 |
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creator | Ciolfi, Andrea Aref-Eshghi, Erfan Pizzi, Simone Pedace, Lucia Miele, Evelina Kerkhof, Jennifer Flex, Elisabetta Martinelli, Simone Radio, Francesca Clementina Ruivenkamp, Claudia A L Santen, Gijs W E Bijlsma, Emilia Barge-Schaapveld, Daniela Ounap, Katrin Siu, Victoria Mok Kooy, R Frank Dallapiccola, Bruno Sadikovic, Bekim Tartaglia, Marco |
description | We previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern.
Methylome analysis from peripheral blood samples of six affected subjects led us to identify a specific hypomethylated profile. This "episignature" was enriched for genes involved in neuronal system development and function. A computational classifier yielded full sensitivity and specificity in detecting subjects with Rahman syndrome. Applying this model to a cohort of undiagnosed probands allowed us to reach diagnosis in one subject.
We demonstrate an epigenetic signature in subjects with Rahman syndrome that can be used to reach molecular diagnosis. |
doi_str_mv | 10.1186/s13148-019-0804-0 |
format | Article |
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Methylome analysis from peripheral blood samples of six affected subjects led us to identify a specific hypomethylated profile. This "episignature" was enriched for genes involved in neuronal system development and function. A computational classifier yielded full sensitivity and specificity in detecting subjects with Rahman syndrome. Applying this model to a cohort of undiagnosed probands allowed us to reach diagnosis in one subject.
We demonstrate an epigenetic signature in subjects with Rahman syndrome that can be used to reach molecular diagnosis.</description><identifier>ISSN: 1868-7075</identifier><identifier>ISSN: 1868-7083</identifier><identifier>EISSN: 1868-7083</identifier><identifier>EISSN: 1868-7075</identifier><identifier>DOI: 10.1186/s13148-019-0804-0</identifier><identifier>PMID: 31910894</identifier><language>eng</language><publisher>Germany: BioMed Central Ltd</publisher><subject>Algorithms ; Analysis ; Blood ; C-Terminus ; Chromatin ; Chromosomes ; Deoxyribonucleic acid ; Diagnosis ; Disabilities ; DNA ; DNA methylation ; Epigenetic inheritance ; Epigenetics ; Frameshift mutation ; Gene expression ; Genes ; Genetic aspects ; Genomes ; Genomics ; Methylation ; Mutation ; Neurons ; Patients ; Peripheral blood ; Principal components analysis ; Regression analysis ; Short Report</subject><ispartof>Clinical epigenetics, 2020-01, Vol.12 (1), p.7-7, Article 7</ispartof><rights>COPYRIGHT 2020 BioMed Central Ltd.</rights><rights>2020. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s). 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c560t-4c42872c30fa8de6e9c928297512fa0839a62a3ad94cdb2e6397faa85ad41f863</citedby><cites>FETCH-LOGICAL-c560t-4c42872c30fa8de6e9c928297512fa0839a62a3ad94cdb2e6397faa85ad41f863</cites><orcidid>0000-0001-7736-9672</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947958/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947958/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31910894$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ciolfi, Andrea</creatorcontrib><creatorcontrib>Aref-Eshghi, Erfan</creatorcontrib><creatorcontrib>Pizzi, Simone</creatorcontrib><creatorcontrib>Pedace, Lucia</creatorcontrib><creatorcontrib>Miele, Evelina</creatorcontrib><creatorcontrib>Kerkhof, Jennifer</creatorcontrib><creatorcontrib>Flex, Elisabetta</creatorcontrib><creatorcontrib>Martinelli, Simone</creatorcontrib><creatorcontrib>Radio, Francesca Clementina</creatorcontrib><creatorcontrib>Ruivenkamp, Claudia A L</creatorcontrib><creatorcontrib>Santen, Gijs W E</creatorcontrib><creatorcontrib>Bijlsma, Emilia</creatorcontrib><creatorcontrib>Barge-Schaapveld, Daniela</creatorcontrib><creatorcontrib>Ounap, Katrin</creatorcontrib><creatorcontrib>Siu, Victoria Mok</creatorcontrib><creatorcontrib>Kooy, R Frank</creatorcontrib><creatorcontrib>Dallapiccola, Bruno</creatorcontrib><creatorcontrib>Sadikovic, Bekim</creatorcontrib><creatorcontrib>Tartaglia, Marco</creatorcontrib><title>Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature</title><title>Clinical epigenetics</title><addtitle>Clin Epigenetics</addtitle><description>We previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern.
Methylome analysis from peripheral blood samples of six affected subjects led us to identify a specific hypomethylated profile. This "episignature" was enriched for genes involved in neuronal system development and function. A computational classifier yielded full sensitivity and specificity in detecting subjects with Rahman syndrome. Applying this model to a cohort of undiagnosed probands allowed us to reach diagnosis in one subject.
We demonstrate an epigenetic signature in subjects with Rahman syndrome that can be used to reach molecular diagnosis.</description><subject>Algorithms</subject><subject>Analysis</subject><subject>Blood</subject><subject>C-Terminus</subject><subject>Chromatin</subject><subject>Chromosomes</subject><subject>Deoxyribonucleic acid</subject><subject>Diagnosis</subject><subject>Disabilities</subject><subject>DNA</subject><subject>DNA methylation</subject><subject>Epigenetic inheritance</subject><subject>Epigenetics</subject><subject>Frameshift mutation</subject><subject>Gene expression</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Methylation</subject><subject>Mutation</subject><subject>Neurons</subject><subject>Patients</subject><subject>Peripheral blood</subject><subject>Principal components analysis</subject><subject>Regression analysis</subject><subject>Short 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Lucia ; Miele, Evelina ; Kerkhof, Jennifer ; Flex, Elisabetta ; Martinelli, Simone ; Radio, Francesca Clementina ; Ruivenkamp, Claudia A L ; Santen, Gijs W E ; Bijlsma, Emilia ; Barge-Schaapveld, Daniela ; Ounap, Katrin ; Siu, Victoria Mok ; Kooy, R Frank ; Dallapiccola, Bruno ; Sadikovic, Bekim ; Tartaglia, Marco</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c560t-4c42872c30fa8de6e9c928297512fa0839a62a3ad94cdb2e6397faa85ad41f863</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Algorithms</topic><topic>Analysis</topic><topic>Blood</topic><topic>C-Terminus</topic><topic>Chromatin</topic><topic>Chromosomes</topic><topic>Deoxyribonucleic acid</topic><topic>Diagnosis</topic><topic>Disabilities</topic><topic>DNA</topic><topic>DNA methylation</topic><topic>Epigenetic inheritance</topic><topic>Epigenetics</topic><topic>Frameshift mutation</topic><topic>Gene expression</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Methylation</topic><topic>Mutation</topic><topic>Neurons</topic><topic>Patients</topic><topic>Peripheral blood</topic><topic>Principal components analysis</topic><topic>Regression analysis</topic><topic>Short Report</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ciolfi, Andrea</creatorcontrib><creatorcontrib>Aref-Eshghi, Erfan</creatorcontrib><creatorcontrib>Pizzi, Simone</creatorcontrib><creatorcontrib>Pedace, Lucia</creatorcontrib><creatorcontrib>Miele, Evelina</creatorcontrib><creatorcontrib>Kerkhof, Jennifer</creatorcontrib><creatorcontrib>Flex, Elisabetta</creatorcontrib><creatorcontrib>Martinelli, Simone</creatorcontrib><creatorcontrib>Radio, Francesca Clementina</creatorcontrib><creatorcontrib>Ruivenkamp, Claudia A L</creatorcontrib><creatorcontrib>Santen, Gijs W E</creatorcontrib><creatorcontrib>Bijlsma, 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Marco</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature</atitle><jtitle>Clinical epigenetics</jtitle><addtitle>Clin Epigenetics</addtitle><date>2020-01-07</date><risdate>2020</risdate><volume>12</volume><issue>1</issue><spage>7</spage><epage>7</epage><pages>7-7</pages><artnum>7</artnum><issn>1868-7075</issn><issn>1868-7083</issn><eissn>1868-7083</eissn><eissn>1868-7075</eissn><abstract>We previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern.
Methylome analysis from peripheral blood samples of six affected subjects led us to identify a specific hypomethylated profile. This "episignature" was enriched for genes involved in neuronal system development and function. A computational classifier yielded full sensitivity and specificity in detecting subjects with Rahman syndrome. Applying this model to a cohort of undiagnosed probands allowed us to reach diagnosis in one subject.
We demonstrate an epigenetic signature in subjects with Rahman syndrome that can be used to reach molecular diagnosis.</abstract><cop>Germany</cop><pub>BioMed Central Ltd</pub><pmid>31910894</pmid><doi>10.1186/s13148-019-0804-0</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0001-7736-9672</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Algorithms Analysis Blood C-Terminus Chromatin Chromosomes Deoxyribonucleic acid Diagnosis Disabilities DNA DNA methylation Epigenetic inheritance Epigenetics Frameshift mutation Gene expression Genes Genetic aspects Genomes Genomics Methylation Mutation Neurons Patients Peripheral blood Principal components analysis Regression analysis Short Report |
title | Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature |
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