A genome-wide DNA methylation signature for SETD1B-related syndrome

<div><p>SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense...

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التفاصيل البيبلوغرافية
المؤلف الرئيسي:	I. M. Krzyzewska (18614968) (author)
مؤلفون آخرون:	S. M. Maas (18614971) (author), P. Henneman (5044997) (author), K. v. d. Lip (18614974) (author), A. Venema (5044994) (author), K. Baranano (7819424) (author), A. Chassevent (7819427) (author), E. Aref-Eshghi (7819430) (author), A. J. van Essen (18614977) (author), T. Fukuda (7819436) (author), H. Ikeda (2235205) (author), M. Jacquemont (7819439) (author), H.-G. Kim (7819442) (author), A. Labalme (3807079) (author), S. M. E. Lewis (18614980) (author), G. Lesca (3807094) (author), I. Madrigal (7819445) (author), S. Mahida (7819448) (author), N. Matsumoto (7819451) (author), R. Rabionet (7819454) (author), E. Rajcan-Separovic (7819457) (author), Y. Qiao (6511862) (author), B. Sadikovic (7819460) (author), H. Saitsu (7819463) (author), D. A. Sweetser (18614983) (author), M. Alders (6496589) (author), M. M. A. M. Mannens (18614986) (author)
منشور في:	2019
الموضوعات:	Biological sciences Genetics Epigenetic control Chromatin structure Gene expression Microdeletions Missense mutations Syndromic intellectual disability (ID)
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!

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author	I. M. Krzyzewska (18614968)
author2	S. M. Maas (18614971) P. Henneman (5044997) K. v. d. Lip (18614974) A. Venema (5044994) K. Baranano (7819424) A. Chassevent (7819427) E. Aref-Eshghi (7819430) A. J. van Essen (18614977) T. Fukuda (7819436) H. Ikeda (2235205) M. Jacquemont (7819439) H.-G. Kim (7819442) A. Labalme (3807079) S. M. E. Lewis (18614980) G. Lesca (3807094) I. Madrigal (7819445) S. Mahida (7819448) N. Matsumoto (7819451) R. Rabionet (7819454) E. Rajcan-Separovic (7819457) Y. Qiao (6511862) B. Sadikovic (7819460) H. Saitsu (7819463) D. A. Sweetser (18614983) M. Alders (6496589) M. M. A. M. Mannens (18614986)
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author
author_facet	I. M. Krzyzewska (18614968) S. M. Maas (18614971) P. Henneman (5044997) K. v. d. Lip (18614974) A. Venema (5044994) K. Baranano (7819424) A. Chassevent (7819427) E. Aref-Eshghi (7819430) A. J. van Essen (18614977) T. Fukuda (7819436) H. Ikeda (2235205) M. Jacquemont (7819439) H.-G. Kim (7819442) A. Labalme (3807079) S. M. E. Lewis (18614980) G. Lesca (3807094) I. Madrigal (7819445) S. Mahida (7819448) N. Matsumoto (7819451) R. Rabionet (7819454) E. Rajcan-Separovic (7819457) Y. Qiao (6511862) B. Sadikovic (7819460) H. Saitsu (7819463) D. A. Sweetser (18614983) M. Alders (6496589) M. M. A. M. Mannens (18614986)
author_role	author
dc.creator.none.fl_str_mv	I. M. Krzyzewska (18614968) S. M. Maas (18614971) P. Henneman (5044997) K. v. d. Lip (18614974) A. Venema (5044994) K. Baranano (7819424) A. Chassevent (7819427) E. Aref-Eshghi (7819430) A. J. van Essen (18614977) T. Fukuda (7819436) H. Ikeda (2235205) M. Jacquemont (7819439) H.-G. Kim (7819442) A. Labalme (3807079) S. M. E. Lewis (18614980) G. Lesca (3807094) I. Madrigal (7819445) S. Mahida (7819448) N. Matsumoto (7819451) R. Rabionet (7819454) E. Rajcan-Separovic (7819457) Y. Qiao (6511862) B. Sadikovic (7819460) H. Saitsu (7819463) D. A. Sweetser (18614983) M. Alders (6496589) M. M. A. M. Mannens (18614986)
dc.date.none.fl_str_mv	2019-11-04T06:00:00Z
dc.identifier.none.fl_str_mv	10.1186/s13148-019-0749-3
dc.relation.none.fl_str_mv	https://figshare.com/articles/journal_contribution/A_genome-wide_DNA_methylation_signature_for_SETD1B-related_syndrome/25904128
dc.rights.none.fl_str_mv	CC BY 4.0 info:eu-repo/semantics/openAccess
dc.subject.none.fl_str_mv	Biological sciences Genetics Epigenetic control Chromatin structure Gene expression Microdeletions Missense mutations Syndromic intellectual disability (ID)
dc.title.none.fl_str_mv	A genome-wide DNA methylation signature for SETD1B-related syndrome
dc.type.none.fl_str_mv	Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal
description	<div><p>SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were previously linked to syndromic intellectual disability (ID). Here, we identify a specific hypermethylation signature associated with loss of function mutations in theSETD1Bgene which may be used as an epigenetic marker supporting the diagnosis of syndromicSETD1B-related diseases. We demonstrate the clinical utility of this unique epi-signature by reclassifying previously identifiedSETD1BVUS (variant of uncertain significance) in two patients.</p><p> </p></div><h2>Other Information</h2> <p> Published in: Clinical Epigenetics<br> License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s13148-019-0749-3" target="_blank">https://dx.doi.org/10.1186/s13148-019-0749-3</a></p>
eu_rights_str_mv	openAccess
id	Manara2_33574acc172e185bda66e38e0e9084bd
identifier_str_mv	10.1186/s13148-019-0749-3
network_acronym_str	Manara2
network_name_str	Manara2
oai_identifier_str	oai:figshare.com:article/25904128
publishDate	2019
repository.mail.fl_str_mv
repository.name.fl_str_mv
repository_id_str
rights_invalid_str_mv	CC BY 4.0
spelling	A genome-wide DNA methylation signature for SETD1B-related syndromeI. M. Krzyzewska (18614968)S. M. Maas (18614971)P. Henneman (5044997)K. v. d. Lip (18614974)A. Venema (5044994)K. Baranano (7819424)A. Chassevent (7819427)E. Aref-Eshghi (7819430)A. J. van Essen (18614977)T. Fukuda (7819436)H. Ikeda (2235205)M. Jacquemont (7819439)H.-G. Kim (7819442)A. Labalme (3807079)S. M. E. Lewis (18614980)G. Lesca (3807094)I. Madrigal (7819445)S. Mahida (7819448)N. Matsumoto (7819451)R. Rabionet (7819454)E. Rajcan-Separovic (7819457)Y. Qiao (6511862)B. Sadikovic (7819460)H. Saitsu (7819463)D. A. Sweetser (18614983)M. Alders (6496589)M. M. A. M. Mannens (18614986)Biological sciencesGeneticsEpigenetic controlChromatin structureGene expressionMicrodeletionsMissense mutationsSyndromic intellectual disability (ID)<div><p>SETD1B is a component of a histone methyltransferase complex that specifically methylates Lys-4 of histone H3 (H3K4) and is responsible for the epigenetic control of chromatin structure and gene expression. De novo microdeletions encompassing this gene as well as de novo missense mutations were previously linked to syndromic intellectual disability (ID). Here, we identify a specific hypermethylation signature associated with loss of function mutations in theSETD1Bgene which may be used as an epigenetic marker supporting the diagnosis of syndromicSETD1B-related diseases. We demonstrate the clinical utility of this unique epi-signature by reclassifying previously identifiedSETD1BVUS (variant of uncertain significance) in two patients.</p><p> </p></div><h2>Other Information</h2> <p> Published in: Clinical Epigenetics<br> License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s13148-019-0749-3" target="_blank">https://dx.doi.org/10.1186/s13148-019-0749-3</a></p>2019-11-04T06:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1186/s13148-019-0749-3https://figshare.com/articles/journal_contribution/A_genome-wide_DNA_methylation_signature_for_SETD1B-related_syndrome/25904128CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/259041282019-11-04T06:00:00Z
spellingShingle	A genome-wide DNA methylation signature for SETD1B-related syndrome I. M. Krzyzewska (18614968) Biological sciences Genetics Epigenetic control Chromatin structure Gene expression Microdeletions Missense mutations Syndromic intellectual disability (ID)
status_str	publishedVersion
title	A genome-wide DNA methylation signature for SETD1B-related syndrome
title_full	A genome-wide DNA methylation signature for SETD1B-related syndrome
title_fullStr	A genome-wide DNA methylation signature for SETD1B-related syndrome
title_full_unstemmed	A genome-wide DNA methylation signature for SETD1B-related syndrome
title_short	A genome-wide DNA methylation signature for SETD1B-related syndrome
title_sort	A genome-wide DNA methylation signature for SETD1B-related syndrome
topic	Biological sciences Genetics Epigenetic control Chromatin structure Gene expression Microdeletions Missense mutations Syndromic intellectual disability (ID)

A genome-wide DNA methylation signature for SETD1B-related syndrome

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