Cargando…

Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy

Background: Leukoencephalopathy and visual impairment have been linked to loss-of-function mutations in the CLCN2 gene (MIM #600570). However, the ocular features caused by the CLCN2 mutations remain poorly understood and seldom reported. This study aims to present a novel mutation and characterize...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cheng, Yizhe, Liu, Xinyu, Sun, Limei, Ding, Xiaoyan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665509/ https://www.ncbi.nlm.nih.gov/pubmed/38028614 http://dx.doi.org/10.3389/fgene.2023.1278961

Ejemplares similares

CLCN2-related leukoencephalopathy: a case report and review of the literature
por: Guo, Zhuoxin, et al.
Publicado: (2019)

A Tunisian patient with CLCN2‐related leukoencephalopathy
por: Ben Mohamed, Dina, et al.
Publicado: (2022)

Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
por: Almasoudi, Wejdan, et al.
Publicado: (2023)

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family
por: Jin, Chunlei, et al.
Publicado: (2023)

Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis
por: Yang, Minyi, et al.
Publicado: (2022)

Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
por: Li, Yu-Ming, et al.
Publicado: (2023)

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
por: Diaz-Lombana, Natalia, et al.
Publicado: (2023)

A novel frameshift mutation in TRPV6 is associated with hereditary pancreatitis
por: Shah, Idrees A., et al.
Publicado: (2023)

Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone age
por: Huang, Hao, et al.
Publicado: (2023)

Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
por: Zhu, Jingyi, et al.
Publicado: (2023)

Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification
por: Shen, Yuqi, et al.
Publicado: (2021)

Novel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case Reports
por: Lakraj, Amanda Amrita, et al.
Publicado: (2013)

SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis
por: Micaglio, Emanuele, et al.
Publicado: (2019)

On programmed ribosomal frameshifting: the alternative proteomes
por: Ketteler, Robin
Publicado: (2012)

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype
por: Micaglio, Emanuele, et al.
Publicado: (2019)

A Case Report of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Misdiagnosed as Multiple Sclerosis
por: Aljaberi, Kholoud, et al.
Publicado: (2023)

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family
por: Musa, Nurul Huda, et al.
Publicado: (2023)

Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis
por: Liu, Yuefang, et al.
Publicado: (2023)

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
por: Abdulkareem, Angham Abdulrhman, et al.
Publicado: (2023)

A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids
por: Yang, Xiaodong, et al.
Publicado: (2019)

Two brothers with identical variants of the CLCN5 gene—one developing Dent’s disease
por: Fischer, Anne Sophie, et al.
Publicado: (2018)

Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family
por: Zhang, Mengqi, et al.
Publicado: (2020)

A Rare Heterozygous TINF2 Deletional Frameshift Mutation in a Chinese Pedigree With a Spectrum of TBDs Phenotypes
por: Ren, Hai-Long, et al.
Publicado: (2022)

Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome
por: Tsai, Meng-Che, et al.
Publicado: (2018)

Novel mutation in exon11 of PRKCG (SCA14): A case report
por: Sun, Rong, et al.
Publicado: (2023)

Identification of Somatic Mutations in CLCN2 in Aldosterone-Producing Adenomas
por: Rege, Juilee, et al.
Publicado: (2020)

A Frameshift RBM10 Variant Associated With TARP Syndrome
por: Daicheng, Han, et al.
Publicado: (2022)

Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy
por: Chen, Wenjie, et al.
Publicado: (2021)

A New NOTCH3 Gene Mutation Associated With a CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy) Diagnosis
por: Neto, Daniela, et al.
Publicado: (2022)

Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter
por: Deng, Jiong, et al.
Publicado: (2021)

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report
por: Ni, Jiajia, et al.
Publicado: (2022)

A Case of Atypical Multiple Sclerosis Mimicking Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Syndrome
por: Orhan Varoğlu, Asuman, et al.
Publicado: (2021)

A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita
por: Gandolfi, Barbara, et al.
Publicado: (2014)

CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II
por: Scholl, Ute I., et al.
Publicado: (2018)

Case Report: Lung adenocarcinoma associated with germline ERCC2 frameshift mutation
por: Liu, Lili, et al.
Publicado: (2023)

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
por: Wang, Xia, et al.
Publicado: (2023)

Integrated bioinformatics analysis for novel miRNAs markers and ceRNA network in diabetic retinopathy
por: Li, Jingru, et al.
Publicado: (2022)

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
por: Kang, Sol, et al.
Publicado: (2019)

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation
por: Sun, Hairui, et al.
Publicado: (2022)

Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
por: Moon, In-Soo, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_4lvvj7fg62h39bv74dhgu8i6c7