Cargando…

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

RNA polymerase III-related leukodystrophy (POLR3-related leukodystrophy) is a rare, genetically determined hypomyelinating disease arising from biallelic pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III). Here, we describe the first reported case of POLR3-related leukody...

Descripción completa

Detalles Bibliográficos
Autores principales:	Macintosh, Julia, Perrier, Stefanie, Pinard, Maxime, Tran, Luan T., Guerrero, Kether, Prasad, Chitra, Prasad, Asuri N., Pastinen, Tomi, Thiffault, Isabelle, Coulombe, Benoit, Bernard, Geneviève
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616956/ https://www.ncbi.nlm.nih.gov/pubmed/37915380 http://dx.doi.org/10.3389/fneur.2023.1254140

Ejemplares similares

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy
por: Michell-Robinson, Mackenzie A, et al.
Publicado: (2023)

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
por: Macintosh, Julia, et al.
Publicado: (2023)

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy
por: Gutierrez, Mariana, et al.
Publicado: (2015)

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
por: Gauquelin, Laurence, et al.
Publicado: (2019)

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
por: Mirchi, Amytice, et al.
Publicado: (2023)

POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
por: Coulombe, Benoit, et al.
Publicado: (2021)

POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy
por: Kashiki, Hitoshi, et al.
Publicado: (2020)

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
por: Choquet, Karine, et al.
Publicado: (2017)

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
por: Dorboz, Imen, et al.
Publicado: (2018)

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches
por: Perrier, Stefanie, et al.
Publicado: (2021)

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
por: Thiffault, Isabelle, et al.
Publicado: (2015)

Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H
por: Pinard, Maxime, et al.
Publicado: (2022)

POLR3-related Leukodystrophy
por: Thomas, Aby, et al.
Publicado: (2019)

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
por: Potic, Ana, et al.
Publicado: (2023)

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
por: Verdura, Edgard, et al.
Publicado: (2021)

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts
por: Jurkiewicz, E., et al.
Publicado: (2015)

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
por: Pelletier, Félixe, et al.
Publicado: (2020)

Hypomyelinating Leukodystrophy 7 (HLD7)-Associated Mutation of POLR3A Is Related to Defective Oligodendroglial Cell Differentiation, Which Is Ameliorated by Ibuprofen
por: Sawaguchi, Sui, et al.
Publicado: (2021)

A hypomyelinating leukodystrophy in German Shepherd dogs
por: Quitt, Pia R., et al.
Publicado: (2021)

Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs)
por: Torii, Tomohiro, et al.
Publicado: (2023)

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum
por: Mendes, Marisa I., et al.
Publicado: (2019)

Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister
por: Bai, Hengzhou, et al.
Publicado: (2022)

Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen
por: Sawaguchi, Sui, et al.
Publicado: (2022)

Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease
por: Naseer, Muhammad Imran, et al.
Publicado: (2022)

The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis
por: Choquet, Karine, et al.
Publicado: (2019)

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing
por: Perrier, Stefanie, et al.
Publicado: (2023)

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
por: Ito, Yoko, et al.
Publicado: (2018)

Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200
por: Choquet, Karine, et al.
Publicado: (2019)

Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy
por: Yan, Huifang, et al.
Publicado: (2022)

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy
por: Potic, Ana, et al.
Publicado: (2015)

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report
por: Wu, Shuiyan, et al.
Publicado: (2019)

Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation
por: Miyamoto, Yuki, et al.
Publicado: (2017)

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy
por: Cömert, Cagla, et al.
Publicado: (2020)

Classifying Hypomyelination: A Critical (White) Matter
por: Perrier, Stefanie, et al.
Publicado: (2020)

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
por: Misceo, Doriana, et al.
Publicado: (2023)

Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein
por: Gazzerro, Elisabetta, et al.
Publicado: (2012)

Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation
por: Matsumoto, Naoto, et al.
Publicado: (2019)

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
por: Yan, Huifang, et al.
Publicado: (2021)

A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder
por: Komachali, Sajad Rafiee, et al.
Publicado: (2022)

Mutation in PYCR2 gene and hypomyelinating leukodystrophy in children: a case report study
por: Hosseini, Seyed Ahmad, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_3jculc7gnr35gc4fe0tvkee3mv