Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by mi...
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Gespeichert in:

Autor*in:	Yauy, Kevin [verfasserIn] Schneider, Anouck Ng, Bee Ling Gaillard, Jean-Baptiste Sati, Satish Coubes, Christine Wells, Constance Tournaire, Magali Guignard, Thomas Bouret, Pauline Geneviève, David Puechberty, Jacques Pellestor, Franck Gatinois, Vincent

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	Intellectual disability (ID) Topologically associated domains (TAD)

Anmerkung:	© The Author(s). 2019

Übergeordnetes Werk:	Enthalten in: BMC medical genomics - London : BioMed Central, 2008, 12(2019), 1 vom: 02. Aug.
Übergeordnetes Werk:	volume:12 ; year:2019 ; number:1 ; day:02 ; month:08

Links:	Volltext

DOI / URN:	10.1186/s12920-019-0558-8

Katalog-ID:	SPR028475526

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520			\|a Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Conclusions Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. We report the first case of a balanced translocation leading to an overexpression of MEF2C similar to a functional duplication.
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Indexfelder

author_variant	k y ky a s as b l n bl bln j b g jbg s s ss c c cc c w cw m t mt t g tg p b pb d g dg j p jp f p fp v g vg
matchkey_str	article:17558794:2019----::irpinfhoaiognstocuemfceevrxrsinnnelc
hierarchy_sort_str	2019
publishDate	2019
allfields	10.1186/s12920-019-0558-8 doi (DE-627)SPR028475526 (SPR)s12920-019-0558-8-e DE-627 ger DE-627 rakwb eng Yauy, Kevin verfasserin aut Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Conclusions Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. We report the first case of a balanced translocation leading to an overexpression of MEF2C similar to a functional duplication. Intellectual disability (ID) (dpeaa)DE-He213 Topologically associated domains (TAD) (dpeaa)DE-He213 Schneider, Anouck aut Ng, Bee Ling aut Gaillard, Jean-Baptiste aut Sati, Satish aut Coubes, Christine aut Wells, Constance aut Tournaire, Magali aut Guignard, Thomas aut Bouret, Pauline aut Geneviève, David aut Puechberty, Jacques aut Pellestor, Franck aut Gatinois, Vincent (orcid)0000-0003-0480-6709 aut Enthalten in BMC medical genomics London : BioMed Central, 2008 12(2019), 1 vom: 02. Aug. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:12 year:2019 number:1 day:02 month:08 https://dx.doi.org/10.1186/s12920-019-0558-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2019 1 02 08
spelling	10.1186/s12920-019-0558-8 doi (DE-627)SPR028475526 (SPR)s12920-019-0558-8-e DE-627 ger DE-627 rakwb eng Yauy, Kevin verfasserin aut Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Conclusions Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. We report the first case of a balanced translocation leading to an overexpression of MEF2C similar to a functional duplication. Intellectual disability (ID) (dpeaa)DE-He213 Topologically associated domains (TAD) (dpeaa)DE-He213 Schneider, Anouck aut Ng, Bee Ling aut Gaillard, Jean-Baptiste aut Sati, Satish aut Coubes, Christine aut Wells, Constance aut Tournaire, Magali aut Guignard, Thomas aut Bouret, Pauline aut Geneviève, David aut Puechberty, Jacques aut Pellestor, Franck aut Gatinois, Vincent (orcid)0000-0003-0480-6709 aut Enthalten in BMC medical genomics London : BioMed Central, 2008 12(2019), 1 vom: 02. Aug. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:12 year:2019 number:1 day:02 month:08 https://dx.doi.org/10.1186/s12920-019-0558-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2019 1 02 08
allfields_unstemmed	10.1186/s12920-019-0558-8 doi (DE-627)SPR028475526 (SPR)s12920-019-0558-8-e DE-627 ger DE-627 rakwb eng Yauy, Kevin verfasserin aut Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Conclusions Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. We report the first case of a balanced translocation leading to an overexpression of MEF2C similar to a functional duplication. Intellectual disability (ID) (dpeaa)DE-He213 Topologically associated domains (TAD) (dpeaa)DE-He213 Schneider, Anouck aut Ng, Bee Ling aut Gaillard, Jean-Baptiste aut Sati, Satish aut Coubes, Christine aut Wells, Constance aut Tournaire, Magali aut Guignard, Thomas aut Bouret, Pauline aut Geneviève, David aut Puechberty, Jacques aut Pellestor, Franck aut Gatinois, Vincent (orcid)0000-0003-0480-6709 aut Enthalten in BMC medical genomics London : BioMed Central, 2008 12(2019), 1 vom: 02. Aug. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:12 year:2019 number:1 day:02 month:08 https://dx.doi.org/10.1186/s12920-019-0558-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2019 1 02 08
allfieldsGer	10.1186/s12920-019-0558-8 doi (DE-627)SPR028475526 (SPR)s12920-019-0558-8-e DE-627 ger DE-627 rakwb eng Yauy, Kevin verfasserin aut Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Conclusions Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. We report the first case of a balanced translocation leading to an overexpression of MEF2C similar to a functional duplication. Intellectual disability (ID) (dpeaa)DE-He213 Topologically associated domains (TAD) (dpeaa)DE-He213 Schneider, Anouck aut Ng, Bee Ling aut Gaillard, Jean-Baptiste aut Sati, Satish aut Coubes, Christine aut Wells, Constance aut Tournaire, Magali aut Guignard, Thomas aut Bouret, Pauline aut Geneviève, David aut Puechberty, Jacques aut Pellestor, Franck aut Gatinois, Vincent (orcid)0000-0003-0480-6709 aut Enthalten in BMC medical genomics London : BioMed Central, 2008 12(2019), 1 vom: 02. Aug. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:12 year:2019 number:1 day:02 month:08 https://dx.doi.org/10.1186/s12920-019-0558-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2019 1 02 08
allfieldsSound	10.1186/s12920-019-0558-8 doi (DE-627)SPR028475526 (SPR)s12920-019-0558-8-e DE-627 ger DE-627 rakwb eng Yauy, Kevin verfasserin aut Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Conclusions Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. We report the first case of a balanced translocation leading to an overexpression of MEF2C similar to a functional duplication. Intellectual disability (ID) (dpeaa)DE-He213 Topologically associated domains (TAD) (dpeaa)DE-He213 Schneider, Anouck aut Ng, Bee Ling aut Gaillard, Jean-Baptiste aut Sati, Satish aut Coubes, Christine aut Wells, Constance aut Tournaire, Magali aut Guignard, Thomas aut Bouret, Pauline aut Geneviève, David aut Puechberty, Jacques aut Pellestor, Franck aut Gatinois, Vincent (orcid)0000-0003-0480-6709 aut Enthalten in BMC medical genomics London : BioMed Central, 2008 12(2019), 1 vom: 02. Aug. (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:12 year:2019 number:1 day:02 month:08 https://dx.doi.org/10.1186/s12920-019-0558-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2019 1 02 08
language	English
source	Enthalten in BMC medical genomics 12(2019), 1 vom: 02. Aug. volume:12 year:2019 number:1 day:02 month:08
sourceStr	Enthalten in BMC medical genomics 12(2019), 1 vom: 02. Aug. volume:12 year:2019 number:1 day:02 month:08
format_phy_str_mv	Article
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topic_facet	Intellectual disability (ID) Topologically associated domains (TAD)
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container_title	BMC medical genomics
authorswithroles_txt_mv	Yauy, Kevin @@aut@@ Schneider, Anouck @@aut@@ Ng, Bee Ling @@aut@@ Gaillard, Jean-Baptiste @@aut@@ Sati, Satish @@aut@@ Coubes, Christine @@aut@@ Wells, Constance @@aut@@ Tournaire, Magali @@aut@@ Guignard, Thomas @@aut@@ Bouret, Pauline @@aut@@ Geneviève, David @@aut@@ Puechberty, Jacques @@aut@@ Pellestor, Franck @@aut@@ Gatinois, Vincent @@aut@@
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author	Yauy, Kevin
spellingShingle	Yauy, Kevin misc Intellectual disability (ID) misc Topologically associated domains (TAD) Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
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topic_title	Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report Intellectual disability (ID) (dpeaa)DE-He213 Topologically associated domains (TAD) (dpeaa)DE-He213
topic	misc Intellectual disability (ID) misc Topologically associated domains (TAD)
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title	Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
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title_full	Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
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author_browse	Yauy, Kevin Schneider, Anouck Ng, Bee Ling Gaillard, Jean-Baptiste Sati, Satish Coubes, Christine Wells, Constance Tournaire, Magali Guignard, Thomas Bouret, Pauline Geneviève, David Puechberty, Jacques Pellestor, Franck Gatinois, Vincent
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title_sort	disruption of chromatin organisation causes mef2c gene overexpression in intellectual disability: a case report
title_auth	Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
abstract	Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Conclusions Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. We report the first case of a balanced translocation leading to an overexpression of MEF2C similar to a functional duplication. © The Author(s). 2019
abstractGer	Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Conclusions Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. We report the first case of a balanced translocation leading to an overexpression of MEF2C similar to a functional duplication. © The Author(s). 2019
abstract_unstemmed	Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Conclusions Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. We report the first case of a balanced translocation leading to an overexpression of MEF2C similar to a functional duplication. © The Author(s). 2019
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title_short	Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
url	https://dx.doi.org/10.1186/s12920-019-0558-8
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author2	Schneider, Anouck Ng, Bee Ling Gaillard, Jean-Baptiste Sati, Satish Coubes, Christine Wells, Constance Tournaire, Magali Guignard, Thomas Bouret, Pauline Geneviève, David Puechberty, Jacques Pellestor, Franck Gatinois, Vincent
author2Str	Schneider, Anouck Ng, Bee Ling Gaillard, Jean-Baptiste Sati, Satish Coubes, Christine Wells, Constance Tournaire, Magali Guignard, Thomas Bouret, Pauline Geneviève, David Puechberty, Jacques Pellestor, Franck Gatinois, Vincent
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up_date	2024-07-03T19:39:55.601Z
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fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR028475526</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519123509.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201007s2019 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1186/s12920-019-0558-8</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR028475526</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s12920-019-0558-8-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Yauy, Kevin</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2019</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© The Author(s). 2019</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explored by microarray, Array Painting and Sanger sequencing. No gene disruption was found but the chromosome 5 breakpoint was localized 228-kb upstream of the MEF2C gene. The predicted Topologically Associated Domains analysis shows that it contains only the MEF2C gene and a long non-coding RNA LINC01226. RNA studies looking for MEF2C gene expression revealed an overexpression of MEF2C in the lymphoblastoid cell line of the patient. Conclusions Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. The microduplications in these individuals also contain other genes expressed in the brain. The patient presented the same phenotype as 5q14.3 microduplication patients. 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Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

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