ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. / Oates, Stephanie; Absoud, Michael; Goyal, Sushma; Bayley, Sophie; Baulcomb, Jennifer; Sims, Annemarie; Riddett, Amy; Allis, Katrina; Brasch-Andersen, Charlotte; Balasubramanian, Meena; Bai, Renkui; Callewaert, Bert; Hüffmeier, Ulrike; Le Duc, Diana; Radtke, Maximilian; Korff, Christian; Kennedy, Joanna; Low, Karen; Møller, Rikke S.; Nielsen, Jens Erik Klint; Popp, Bernt; Quteineh, Lina; Rønde, Gitte; Schönewolf-Greulich, Bitten; Shillington, Amelle; Taylor, Matthew R.G.; Todd, Emily; Torring, Pernille M.; DMSc, Zeynep Tümer M.D.Ph D.; Vasileiou, Georgia; Yates, T. Michael; Zweier, Christiane; Rosch, Richard; Basson, M. Albert; Pal, Deb K.

I: Clinical Genetics, Bind 100, Nr. 4, 2021, s. 412-429.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Oates, S, Absoud, M, Goyal, S, Bayley, S, Baulcomb, J, Sims, A, Riddett, A, Allis, K, Brasch-Andersen, C, Balasubramanian, M, Bai, R, Callewaert, B, Hüffmeier, U, Le Duc, D, Radtke, M, Korff, C, Kennedy, J, Low, K, Møller, RS, Nielsen, JEK, Popp, B, Quteineh, L, Rønde, G, Schönewolf-Greulich, B, Shillington, A, Taylor, MRG, Todd, E, Torring, PM, DMSc, ZTMDPD, Vasileiou, G, Yates, TM, Zweier, C, Rosch, R, Basson, MA & Pal, DK 2021, 'ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder', Clinical Genetics, bind 100, nr. 4, s. 412-429. https://doi.org/10.1111/cge.14023

APA

Oates, S., Absoud, M., Goyal, S., Bayley, S., Baulcomb, J., Sims, A., Riddett, A., Allis, K., Brasch-Andersen, C., Balasubramanian, M., Bai, R., Callewaert, B., Hüffmeier, U., Le Duc, D., Radtke, M., Korff, C., Kennedy, J., Low, K., Møller, R. S., ... Pal, D. K. (2021). ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clinical Genetics, 100(4), 412-429. https://doi.org/10.1111/cge.14023

Vancouver

Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A o.a. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clinical Genetics. 2021;100(4):412-429. https://doi.org/10.1111/cge.14023

Author

Oates, Stephanie ; Absoud, Michael ; Goyal, Sushma ; Bayley, Sophie ; Baulcomb, Jennifer ; Sims, Annemarie ; Riddett, Amy ; Allis, Katrina ; Brasch-Andersen, Charlotte ; Balasubramanian, Meena ; Bai, Renkui ; Callewaert, Bert ; Hüffmeier, Ulrike ; Le Duc, Diana ; Radtke, Maximilian ; Korff, Christian ; Kennedy, Joanna ; Low, Karen ; Møller, Rikke S. ; Nielsen, Jens Erik Klint ; Popp, Bernt ; Quteineh, Lina ; Rønde, Gitte ; Schönewolf-Greulich, Bitten ; Shillington, Amelle ; Taylor, Matthew R.G. ; Todd, Emily ; Torring, Pernille M. ; DMSc, Zeynep Tümer M.D.Ph D. ; Vasileiou, Georgia ; Yates, T. Michael ; Zweier, Christiane ; Rosch, Richard ; Basson, M. Albert ; Pal, Deb K. / ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. I: Clinical Genetics. 2021 ; Bind 100, Nr. 4. s. 412-429.

Bibtex

@article{6505d362022e4d99ace4663672034eb2,

title = "ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder",

abstract = "ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 individuals with pathogenic variants in ZMYND11. We obtained clinical descriptions of 16 new and nine published individuals, plus detailed case history of two children. New individuals were identified through GeneMatcher, ClinVar and the European Network for Therapies in Rare Epilepsy (NETRE). Genetic evaluation was performed using gene panels or exome sequencing; variants were classified using American College of Medical Genetics (ACMG) criteria. Individuals with ZMYND11 associated epilepsy fell into three groups: (i) atypical benign partial epilepsy or idiopathic focal epilepsy (n = 8); (ii) generalised epilepsies/infantile epileptic encephalopathy (n = 4); (iii) unclassified (n = 8). Seizure prognosis ranged from spontaneous remission to drug resistant. Neurodevelopmental deficits were invariable. Dysmorphic features were variable. Variants were distributed across the gene and mostly de novo with no precise genotype–phenotype correlation. ZMYND11 is one of a small group of chromatin reader genes associated in the pathogenesis of epilepsy, and specifically ABPE. More detailed epilepsy descriptions of larger cohorts and functional studies might reveal genotype–phenotype correlation. The epileptogenic mechanism may be linked to interaction with histone H3.3.",

keywords = "antiepileptic drug, autism, bromodomain, comorbidity, EEG, epigenetic, histone H3.3, seizure",

author = "Stephanie Oates and Michael Absoud and Sushma Goyal and Sophie Bayley and Jennifer Baulcomb and Annemarie Sims and Amy Riddett and Katrina Allis and Charlotte Brasch-Andersen and Meena Balasubramanian and Renkui Bai and Bert Callewaert and Ulrike H{\"u}ffmeier and {Le Duc}, Diana and Maximilian Radtke and Christian Korff and Joanna Kennedy and Karen Low and M{\o}ller, {Rikke S.} and Nielsen, {Jens Erik Klint} and Bernt Popp and Lina Quteineh and Gitte R{\o}nde and Bitten Sch{\"o}newolf-Greulich and Amelle Shillington and Taylor, {Matthew R.G.} and Emily Todd and Torring, {Pernille M.} and DMSc, {Zeynep T{\"u}mer M.D.Ph D.} and Georgia Vasileiou and Yates, {T. Michael} and Christiane Zweier and Richard Rosch and Basson, {M. Albert} and Pal, {Deb K.}",

note = "Publisher Copyright: {\textcopyright} 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",

year = "2021",

doi = "10.1111/cge.14023",

language = "English",

volume = "100",

pages = "412--429",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell",

number = "4",

}

RIS

TY - JOUR

T1 - ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

AU - Oates, Stephanie

AU - Absoud, Michael

AU - Goyal, Sushma

AU - Bayley, Sophie

AU - Baulcomb, Jennifer

AU - Sims, Annemarie

AU - Riddett, Amy

AU - Allis, Katrina

AU - Brasch-Andersen, Charlotte

AU - Balasubramanian, Meena

AU - Bai, Renkui

AU - Callewaert, Bert

AU - Hüffmeier, Ulrike

AU - Le Duc, Diana

AU - Radtke, Maximilian

AU - Korff, Christian

AU - Kennedy, Joanna

AU - Low, Karen

AU - Møller, Rikke S.

AU - Nielsen, Jens Erik Klint

AU - Popp, Bernt

AU - Quteineh, Lina

AU - Rønde, Gitte

AU - Schönewolf-Greulich, Bitten

AU - Shillington, Amelle

AU - Taylor, Matthew R.G.

AU - Todd, Emily

AU - Torring, Pernille M.

AU - DMSc, Zeynep Tümer M.D.Ph D.

AU - Vasileiou, Georgia

AU - Yates, T. Michael

AU - Zweier, Christiane

AU - Rosch, Richard

AU - Basson, M. Albert

AU - Pal, Deb K.

PY - 2021

Y1 - 2021

N2 - ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 individuals with pathogenic variants in ZMYND11. We obtained clinical descriptions of 16 new and nine published individuals, plus detailed case history of two children. New individuals were identified through GeneMatcher, ClinVar and the European Network for Therapies in Rare Epilepsy (NETRE). Genetic evaluation was performed using gene panels or exome sequencing; variants were classified using American College of Medical Genetics (ACMG) criteria. Individuals with ZMYND11 associated epilepsy fell into three groups: (i) atypical benign partial epilepsy or idiopathic focal epilepsy (n = 8); (ii) generalised epilepsies/infantile epileptic encephalopathy (n = 4); (iii) unclassified (n = 8). Seizure prognosis ranged from spontaneous remission to drug resistant. Neurodevelopmental deficits were invariable. Dysmorphic features were variable. Variants were distributed across the gene and mostly de novo with no precise genotype–phenotype correlation. ZMYND11 is one of a small group of chromatin reader genes associated in the pathogenesis of epilepsy, and specifically ABPE. More detailed epilepsy descriptions of larger cohorts and functional studies might reveal genotype–phenotype correlation. The epileptogenic mechanism may be linked to interaction with histone H3.3.

AB - ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 individuals with pathogenic variants in ZMYND11. We obtained clinical descriptions of 16 new and nine published individuals, plus detailed case history of two children. New individuals were identified through GeneMatcher, ClinVar and the European Network for Therapies in Rare Epilepsy (NETRE). Genetic evaluation was performed using gene panels or exome sequencing; variants were classified using American College of Medical Genetics (ACMG) criteria. Individuals with ZMYND11 associated epilepsy fell into three groups: (i) atypical benign partial epilepsy or idiopathic focal epilepsy (n = 8); (ii) generalised epilepsies/infantile epileptic encephalopathy (n = 4); (iii) unclassified (n = 8). Seizure prognosis ranged from spontaneous remission to drug resistant. Neurodevelopmental deficits were invariable. Dysmorphic features were variable. Variants were distributed across the gene and mostly de novo with no precise genotype–phenotype correlation. ZMYND11 is one of a small group of chromatin reader genes associated in the pathogenesis of epilepsy, and specifically ABPE. More detailed epilepsy descriptions of larger cohorts and functional studies might reveal genotype–phenotype correlation. The epileptogenic mechanism may be linked to interaction with histone H3.3.

KW - antiepileptic drug

KW - autism

KW - bromodomain

KW - comorbidity

KW - EEG

KW - epigenetic

KW - histone H3.3

KW - seizure

U2 - 10.1111/cge.14023

DO - 10.1111/cge.14023

M3 - Journal article

C2 - 34216016

AN - SCOPUS:85110212566

VL - 100

SP - 412

EP - 429

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 4

ER -

ID: 275775246