Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
ZBTB11
cataracts
deep brain stimulation
movement disorders
Journal
Movement disorders : official journal of the Movement Disorder Society
ISSN: 1531-8257
Titre abrégé: Mov Disord
Pays: United States
ID NLM: 8610688
Informations de publication
Date de publication:
20 Jun 2024
20 Jun 2024
Historique:
revised:
08
05
2024
received:
18
07
2023
accepted:
20
05
2024
medline:
20
6
2024
pubmed:
20
6
2024
entrez:
20
6
2024
Statut:
aheadofprint
Résumé
Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). The 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. Thirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization. All 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. This 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. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Sections du résumé
BACKGROUND
BACKGROUND
Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69).
OBJECTIVE
OBJECTIVE
The 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.
METHODS
METHODS
Thirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization.
RESULTS
RESULTS
All 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.
CONCLUSIONS
CONCLUSIONS
This 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. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Références
Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, et al. ZBTB11 dysfunction: Spectrum of brain abnormalities, biochemical signature and cellular consequences. Brain 2022;145(7):2602–2616.
Scala M, De GE, Nobile G, Iacomino M, Madia F, Nobili L, et al. Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome. Brain 2022;146(1):e1–e4.
Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, et al. Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. Hum Mol Genet 2018;27(18):3177–3188.
Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, et al. Lessons learned from large‐scale, first‐tier clinical exome sequencing in a highly consanguineous population. Am J Hum Genet 2019;104(6):1182–1201.
Garipler G, Lu C, Morrissey A, Lopez‐Zepeda LS, Pei Y, Vidal SE, et al. The BTB transcription factors ZBTB11 and ZFP131 maintain pluripotency by repressing pro‐differentiation genes. Cell Rep 2022;38(11):1–43.
Wilson BC, Boehme L, Annibali A, Hodgkinson A, Carroll TS, Oakey RJ, et al. Intellectual disability‐associated factor Zbtb11 cooperates with NRF‐2/GABP to control mitochondrial function. Nat Commun 2020;11(1):5469. https://doi.org/10.1038/s41467-020-19205-x
Strømme P, Stokke O, Jellum E, Skjeldal OK, Baumgartner R. Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings—a new recessive syndrome? Clin Genet 1995;48(1):1–5.
Hickman RA, O'Shea SA, Mehler MF, Chung WK. Neurogenetic disorders across the lifespan: from aberrant development to degeneration. Nat Rev Neurol 2022;18(2):117–124.
Wareham LK, Liddelow SA, Temple S, Benowitz LI, Di Polo A, Wellington C, et al. Solving neurodegeneration: common mechanisms and strategies for new treatments. Mol Neurodegener 2022;17(1):1–29. https://doi.org/10.1186/s13024-022-00524-0
Tisch S, Kumar KR. Pallidal deep brain stimulation for monogenic dystonia: the effect of gene on outcome. Front Neurol 2021;11(January):630391.
van derVeen S, Zutt R, Klein C, Marras C, Berkovic SF, Caviness JN, et al. Nomenclature of genetically determined myoclonus syndromes: recommendations of the International Parkinson and Movement Disorder Society task force. Mov Disord 2019;34(11):1602–1613.
Yubero D, Martorell L, Nunes T, Lyon GJ, Ortigoza‐Escobar JD. Neurodevelopmental gene‐related dystonia: a pediatric case with NAA15 variant. Mov Disord 2022;37(11):2320–2321.
Melland H, Bumbak F, Kolesnik‐Taylor A, Ng‐Cordell E, John A, Constantinou P, et al. Expanding the genotype and phenotype spectrum of SYT1‐associated neurodevelopmental disorder. Genet Med 2022;24(4):880–893.
Christensen MB, Levy AM, Mohammadi NA, Niceta M, Kaiyrzhanov R, Dentici ML, et al. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clin Genet 2022;102(2):98–109.
Levtova A, Waters PJ, Buhas D, Lévesque S, Auray‐Blais C, Clarke JTR, et al. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: benign clinical course in an unselected cohort. J Inherit Metab Dis 2019;42(1):107–116.
Algothmi K, Alqurashi A, Alrofaidi A, Alharbi M, Farsi R, Alburae N, et al. DNA methylation level of transcription factor binding site in the promoter region of acyl‐CoA synthetase family member 3 (ACSF3) in Saudi autistic children. Pharmgenomics Pers Med 2022;15(January):131–142.
Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al‐Dirbashi OY, Majewski J, et al. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. Orphanet J Rare Dis 2013;8(1):1–9.