Cargando…

The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations

OBJECTIVES: 4H leukodystrophy is a rare autosomal recessive hypomyelinating disorder characterized by several combinations of motor dysfunction, abnormal dentition, and ophthalmic and endocrine abnormalities. To date, only a single Korean case report of pediatric leukodystrophy caused by the POLR1C...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yang, Hui-Jun, Park, Gyeongmin, Nam-Goong, Il Seong, Ahn, Jun-Woo, Weon, Young Cheol
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2022
Materias:	Clinical/Scientific Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9007423/ https://www.ncbi.nlm.nih.gov/pubmed/35434302 http://dx.doi.org/10.1212/NXG.0000000000000667

Ejemplares similares

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

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset
por: Campopiano, Rosa, et al.
Publicado: (2020)

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

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy
por: Gutierrez, Mariana, 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)

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

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

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

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

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

Myelopathy in a patient with leukodystrophy due to CSF1R mutation
por: Ho, Victoria M., et al.
Publicado: (2019)

A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations
por: Han, Ji Yeon, et al.
Publicado: (2020)

Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy
por: Meier, Kolja, et al.
Publicado: (2020)

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

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

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

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

Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia
por: Kraoua, Ichraf, et al.
Publicado: (2019)

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype
por: Verberne, Eline A., 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)

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

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy
por: Musumeci, Antonino, et al.
Publicado: (2022)

Uncertain significance mutation in the POLR3B gene in a Syrian boy with leukodystrophy: a case report
por: Hamdan, Zulfiqar, et al.
Publicado: (2023)

4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis
por: DeGasperis, Stephanie M., et al.
Publicado: (2020)

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review
por: Sun, Lei, et al.
Publicado: (2023)

Phenotypic variation between siblings with Metachromatic Leukodystrophy
por: Elgün, Saskia, et al.
Publicado: (2019)

A 42-year-old woman with 4H leukodystrophy caused by a homozygous mutation in POLR3A gene
por: Yang, Yi-Ming, et al.
Publicado: (2019)

Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome
por: Veerapandiyan, Aravindhan, et al.
Publicado: (2016)

Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy
por: Solazzi, Roberta, et al.
Publicado: (2022)

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

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy
por: Han, Minje, et al.
Publicado: (2015)

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

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)

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)

A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis
por: Thottath, Jineesh, et al.
Publicado: (2019)

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)

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)

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report
por: Macintosh, Julia, et al.
Publicado: (2023)

Gene duplication and neofunctionalization: POLR3G and POLR3GL
por: Renaud, Marianne, et al.
Publicado: (2014)

Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement
por: Moon, Byungseung, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_145f11342li1g6laka25s41um0