Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders

BackgroundBiallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). ObjectiveThe aim was to provide insights into the clinical and genetic characteristics of ZBTB11-related disorders (ZBTB11-RD), with a par...

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Autores: Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H, Maroofian R
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Recursos:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p26444
Acesso em linha:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26444
Access Level:acceso abierto
Palavra-chave:ZBTB11
movement disorders
deep brain stimulation
cataracts
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repository_id_str
spelling Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersOrtigoza-Escobar JDZamani MDorison NSadeghian SAzizimalamiri RAlvi JRSultan TGalehdari HShariati GSaberi ALeeuwen LZifarelli GBauer Pd'Hardemare VDoummar DRoze ETravaglini LNicita FOjea Ponce NZahraei SMAlabdi LTamim AHashem MOAbabneh FMorrow MMCurry CTam ARuedy JBhambhani VVeith RStrømme PEfthymiou SAlkuraya FSMoreno-De-Luca ABurglen LHoulden HMaroofian RZBTB11movement disordersdeep brain stimulationcataractsBackgroundBiallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). ObjectiveThe aim was to provide insights into the clinical and genetic characteristics of ZBTB11-related disorders (ZBTB11-RD), with a particular emphasis on progressive complex movement abnormalities. MethodsThirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization. ResultsAll patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants. ConclusionsThis study provides additional insights into the clinical features and spectrum of ZBTB11-RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype. (c) 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.WILEY2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26444MOVEMENT DISORDERSISSN: 08853185ISSNe: 15318257reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p264442026-05-27T12:37:41Z
dc.title.none.fl_str_mv Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
title Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
spellingShingle Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Ortigoza-Escobar JD
ZBTB11
movement disorders
deep brain stimulation
cataracts
title_short Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
title_full Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
title_fullStr Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
title_full_unstemmed Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
title_sort Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
dc.creator.none.fl_str_mv Ortigoza-Escobar JD
Zamani M
Dorison N
Sadeghian S
Azizimalamiri R
Alvi JR
Sultan T
Galehdari H
Shariati G
Saberi A
Leeuwen L
Zifarelli G
Bauer P
d'Hardemare V
Doummar D
Roze E
Travaglini L
Nicita F
Ojea Ponce N
Zahraei SM
Alabdi L
Tamim A
Hashem MO
Ababneh F
Morrow MM
Curry C
Tam A
Ruedy J
Bhambhani V
Veith R
Strømme P
Efthymiou S
Alkuraya FS
Moreno-De-Luca A
Burglen L
Houlden H
Maroofian R
author Ortigoza-Escobar JD
author_facet Ortigoza-Escobar JD
Zamani M
Dorison N
Sadeghian S
Azizimalamiri R
Alvi JR
Sultan T
Galehdari H
Shariati G
Saberi A
Leeuwen L
Zifarelli G
Bauer P
d'Hardemare V
Doummar D
Roze E
Travaglini L
Nicita F
Ojea Ponce N
Zahraei SM
Alabdi L
Tamim A
Hashem MO
Ababneh F
Morrow MM
Curry C
Tam A
Ruedy J
Bhambhani V
Veith R
Strømme P
Efthymiou S
Alkuraya FS
Moreno-De-Luca A
Burglen L
Houlden H
Maroofian R
author_role author
author2 Zamani M
Dorison N
Sadeghian S
Azizimalamiri R
Alvi JR
Sultan T
Galehdari H
Shariati G
Saberi A
Leeuwen L
Zifarelli G
Bauer P
d'Hardemare V
Doummar D
Roze E
Travaglini L
Nicita F
Ojea Ponce N
Zahraei SM
Alabdi L
Tamim A
Hashem MO
Ababneh F
Morrow MM
Curry C
Tam A
Ruedy J
Bhambhani V
Veith R
Strømme P
Efthymiou S
Alkuraya FS
Moreno-De-Luca A
Burglen L
Houlden H
Maroofian R
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
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv ZBTB11
movement disorders
deep brain stimulation
cataracts
topic ZBTB11
movement disorders
deep brain stimulation
cataracts
description BackgroundBiallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). ObjectiveThe aim was to provide insights into the clinical and genetic characteristics of ZBTB11-related disorders (ZBTB11-RD), with a particular emphasis on progressive complex movement abnormalities. MethodsThirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization. ResultsAll patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants. ConclusionsThis study provides additional insights into the clinical features and spectrum of ZBTB11-RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype. (c) 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
publishDate 2024
dc.date.none.fl_str_mv 2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26444
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26444
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv WILEY
publisher.none.fl_str_mv WILEY
dc.source.none.fl_str_mv MOVEMENT DISORDERS
ISSN: 08853185
ISSNe: 15318257
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812429

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