Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Deciphering Developmental Disorders (DDD) Study

doi:10.1016/j.ajhg.2019.03.021

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Deciphering Developmental Disorders (DDD) Study

科研成果: 期刊稿件 › 文章 › 同行评审

源语言	英语
页（从-至）	1210-1222
页数	13
期刊	American Journal of Human Genetics
卷	104
期	6
DOI	https://doi.org/10.1016/j.ajhg.2019.03.021
出版状态	已出版 - 6月 6 2019
已对外发布	是

!!!ASJC Scopus Subject Areas

遗传学
遗传学（临床）

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10.1016/j.ajhg.2019.03.021

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@article{8eaf211ce8f340ab87a69e20369fb400,

title = "Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy",

author = "{Deciphering Developmental Disorders (DDD) Study} and O'Donnell-Luria, {Anne H.} and Pais, {Lynn S.} and V{\'i}ctor Faundes and Wood, {Jordan C.} and Abigail Sveden and Victor Luria and {Abou Jamra}, Rami and Andrea Accogli and Kimberly Amburgey and Anderlid, {Britt Marie} and Silvia Azzarello-Burri and Basinger, {Alice A.} and Claudia Bianchini and Bird, {Lynne M.} and Rebecca Buchert and Wilfrid Carre and Sophia Ceulemans and Perrine Charles and Helen Cox and Lisa Culliton and Aurora Curr{\`o} and McRae, {Jeremy F.} and Stephen Clayton and Fitzgerald, {Tomas W.} and Joanna Kaplanis and Elena Prigmore and Diana Rajan and Alejandro Sifrim and Stuart Aitken and Nadia Akawi and Mohsan Alvi and Kirsty Ambridge and Barrett, {Daniel M.} and Tanya Bayzetinova and Philip Jones and Jones, {Wendy D.} and Daniel King and Netravathi Krishnappa and Mason, {Laura E.} and Tarjinder Singh and Tivey, {Adrian R.} and Munaza Ahmed and Uruj Anjum and Hayley Archer and Ruth Armstrong and Jana Awada and Meena Balasubramanian and Siddharth Banka and Diana Baralle and Angela Barnicoat",

note = "Funding Information: We thank the families who participated in this study, GeneMatcher, MyGene2, the gnomAD team, and the Deciphering Developmental Disorders study. We appreciate guidance from Nicole Fleisher for using the Face2Gene software and Steven Harrison for guidance with curation and ClinVar submission. Support was provided by the National Institutes of Health's National Institute of Child Health and Human Development (NICHD) (K12HD052896) and the Boston Children's Hospital Faculty Development Fellowship to A.H.O.L.; the National Human Genome Research Institute-funded Broad Center for Mendelian Genomics (UM1HG008900) to L.S.P. A.S. and S.B.; by NICHD (R01 HD073104 and R01 HD091846) to V.L.; by Chile's National Commission for Scientific and Technological Research (CONICYT) (72160007) to V.F.; by the German Research Society (DFG WE4896/3-1, WE4896/4-1, HE5415/3-1, HE5415/5-1, HE5415/6-1, HE5415/7-1) to Y.W. and I.H.; by intramural funds from the Children's Hospital of Philadelphia and the University of Kiel to I.H.; by Dietmar-Hopp-Stiftung (1DH1813319) to S.S.; by the Health Innovation Challenge Fund (R6-388/WT 100127) and the National Institute for Health Research through the Comprehensive Clinical Research Network to J.C.T.; and by a Skaggs-Oxford Scholarship to J.Z. The DDD Study (Cambridge South REC approval 10/H0305/83 and the Republic of Ireland REC GEN/284/12) presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Department of Health and the Wellcome Sanger Institute (WT098051). Views expressed here are those of the authors and not necessarily those of the Wellcome or the Department of Health. Funding Information: Support was provided by the National Institutes of Health{\textquoteright}s National Institute of Child Health and Human Development ( NICHD ) ( K12HD052896 ) and the Boston Children{\textquoteright}s Hospital Faculty Development Fellowship to A.H.O.L.; the National Human Genome Research Institute -funded Broad Center for Mendelian Genomics ( UM1HG008900 ) to L.S.P., A.S., and S.B.; by NICHD ( R01 HD073104 and R01 HD091846 ) to V.L.; by Chile{\textquoteright}s National Commission for Scientific and Technological Research ( CONICYT ) ( 72160007 ) to V.F.; by the German Research Society ( DFG WE4896/3-1 , WE4896/4-1 , HE5415/3-1 , HE5415/5-1 , HE5415/6-1 , HE5415/7-1 ) to Y.W. and I.H.; by intramural funds from the Children's Hospital of Philadelphia and the University of Kiel to I.H.; by Dietmar-Hopp-Stiftung ( 1DH1813319 ) to S.S.; by the Health Innovation Challenge Fund ( R6-388 / WT 100127 ) and the National Institute for Health Research through the Comprehensive Clinical Research Network to J.C.T.; and by a Skaggs-Oxford Scholarship to J.Z. The DDD Study ( Cambridge South REC approval 10/H0305/83 and the Republic of Ireland REC GEN/284/12 ) presents independent research commissioned by the Health Innovation Challenge Fund ( HICF-1009-003 ), a parallel funding partnership between the Department of Health and the Wellcome Sanger Institute ( WT098051 ). Views expressed here are those of the authors and not necessarily those of the Wellcome or the Department of Health. Publisher Copyright: {\textcopyright} 2019 American Society of Human Genetics",

year = "2019",

month = jun,

day = "6",

doi = "10.1016/j.ajhg.2019.03.021",

language = "English",

volume = "104",

pages = "1210--1222",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "6",

}

TY - JOUR

T1 - Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

AU - Deciphering Developmental Disorders (DDD) Study

AU - O'Donnell-Luria, Anne H.

AU - Pais, Lynn S.

AU - Faundes, Víctor

AU - Wood, Jordan C.

AU - Sveden, Abigail

AU - Luria, Victor

AU - Abou Jamra, Rami

AU - Accogli, Andrea

AU - Amburgey, Kimberly

AU - Anderlid, Britt Marie

AU - Azzarello-Burri, Silvia

AU - Basinger, Alice A.

AU - Bianchini, Claudia

AU - Bird, Lynne M.

AU - Buchert, Rebecca

AU - Carre, Wilfrid

AU - Ceulemans, Sophia

AU - Charles, Perrine

AU - Cox, Helen

AU - Culliton, Lisa

AU - Currò, Aurora

AU - McRae, Jeremy F.

AU - Clayton, Stephen

AU - Fitzgerald, Tomas W.

AU - Kaplanis, Joanna

AU - Prigmore, Elena

AU - Rajan, Diana

AU - Sifrim, Alejandro

AU - Aitken, Stuart

AU - Akawi, Nadia

AU - Alvi, Mohsan

AU - Ambridge, Kirsty

AU - Barrett, Daniel M.

AU - Bayzetinova, Tanya

AU - Jones, Philip

AU - Jones, Wendy D.

AU - King, Daniel

AU - Krishnappa, Netravathi

AU - Mason, Laura E.

AU - Singh, Tarjinder

AU - Tivey, Adrian R.

AU - Ahmed, Munaza

AU - Anjum, Uruj

AU - Archer, Hayley

AU - Armstrong, Ruth

AU - Awada, Jana

AU - Balasubramanian, Meena

AU - Banka, Siddharth

AU - Baralle, Diana

AU - Barnicoat, Angela

N1 - Funding Information: We thank the families who participated in this study, GeneMatcher, MyGene2, the gnomAD team, and the Deciphering Developmental Disorders study. We appreciate guidance from Nicole Fleisher for using the Face2Gene software and Steven Harrison for guidance with curation and ClinVar submission. Support was provided by the National Institutes of Health's National Institute of Child Health and Human Development (NICHD) (K12HD052896) and the Boston Children's Hospital Faculty Development Fellowship to A.H.O.L.; the National Human Genome Research Institute-funded Broad Center for Mendelian Genomics (UM1HG008900) to L.S.P. A.S. and S.B.; by NICHD (R01 HD073104 and R01 HD091846) to V.L.; by Chile's National Commission for Scientific and Technological Research (CONICYT) (72160007) to V.F.; by the German Research Society (DFG WE4896/3-1, WE4896/4-1, HE5415/3-1, HE5415/5-1, HE5415/6-1, HE5415/7-1) to Y.W. and I.H.; by intramural funds from the Children's Hospital of Philadelphia and the University of Kiel to I.H.; by Dietmar-Hopp-Stiftung (1DH1813319) to S.S.; by the Health Innovation Challenge Fund (R6-388/WT 100127) and the National Institute for Health Research through the Comprehensive Clinical Research Network to J.C.T.; and by a Skaggs-Oxford Scholarship to J.Z. The DDD Study (Cambridge South REC approval 10/H0305/83 and the Republic of Ireland REC GEN/284/12) presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Department of Health and the Wellcome Sanger Institute (WT098051). Views expressed here are those of the authors and not necessarily those of the Wellcome or the Department of Health. Funding Information: Support was provided by the National Institutes of Health’s National Institute of Child Health and Human Development ( NICHD ) ( K12HD052896 ) and the Boston Children’s Hospital Faculty Development Fellowship to A.H.O.L.; the National Human Genome Research Institute -funded Broad Center for Mendelian Genomics ( UM1HG008900 ) to L.S.P., A.S., and S.B.; by NICHD ( R01 HD073104 and R01 HD091846 ) to V.L.; by Chile’s National Commission for Scientific and Technological Research ( CONICYT ) ( 72160007 ) to V.F.; by the German Research Society ( DFG WE4896/3-1 , WE4896/4-1 , HE5415/3-1 , HE5415/5-1 , HE5415/6-1 , HE5415/7-1 ) to Y.W. and I.H.; by intramural funds from the Children's Hospital of Philadelphia and the University of Kiel to I.H.; by Dietmar-Hopp-Stiftung ( 1DH1813319 ) to S.S.; by the Health Innovation Challenge Fund ( R6-388 / WT 100127 ) and the National Institute for Health Research through the Comprehensive Clinical Research Network to J.C.T.; and by a Skaggs-Oxford Scholarship to J.Z. The DDD Study ( Cambridge South REC approval 10/H0305/83 and the Republic of Ireland REC GEN/284/12 ) presents independent research commissioned by the Health Innovation Challenge Fund ( HICF-1009-003 ), a parallel funding partnership between the Department of Health and the Wellcome Sanger Institute ( WT098051 ). Views expressed here are those of the authors and not necessarily those of the Wellcome or the Department of Health. Publisher Copyright: © 2019 American Society of Human Genetics

PY - 2019/6/6

Y1 - 2019/6/6

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UR - http://www.scopus.com/inward/citedby.url?scp=85066447016&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2019.03.021

DO - 10.1016/j.ajhg.2019.03.021

M3 - Article

C2 - 31079897

AN - SCOPUS:85066447016

SN - 0002-9297

VL - 104

SP - 1210

EP - 1222

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

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