Cargando…

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations

PURPOSE: To describe the first instance of genotyping in a Latin American family with Wolfram syndrome (WS). METHODS: Four affected siblings and their healthy parents were studied. Ophthalmologic examination included best corrected visual acuity determination, funduscopy, fluorescein retinal angiogr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zenteno, Juan Carlos, Ruiz, Gabriela, Pérez-Cano, Hector J., Camargo, Mayra
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2008
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2483297/ https://www.ncbi.nlm.nih.gov/pubmed/18660851

Ejemplares similares

Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome
por: Pan, Yun-Di, et al.
Publicado: (2019)

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome
por: Ren, Ziyu, et al.
Publicado: (2021)

Genomics of Wolfram Syndrome 1 (WFS1)
por: Kõks, Sulev
Publicado: (2023)

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene
por: Lee, Jinhee, et al.
Publicado: (2022)

Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation
por: Panfili, Eleonora, et al.
Publicado: (2021)

Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome
por: Bodoor, Khaldon, et al.
Publicado: (2016)

Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1
por: Duan, Lian, et al.
Publicado: (2018)

Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders
por: Lee, Evan M., et al.
Publicado: (2023)

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
por: Lee, Evan M., et al.
Publicado: (2023)

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report
por: Li, Min, et al.
Publicado: (2018)

Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines
por: Crouzier, Lucie, et al.
Publicado: (2022)

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report
por: Sahli, Maryem, et al.
Publicado: (2023)

Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features
por: Matsunaga, Kimie, et al.
Publicado: (2014)

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
por: Hu, Kun, et al.
Publicado: (2022)

A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)
por: Torkamandi, Shahram, et al.
Publicado: (2020)

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
por: Prochazkova, Dagmar, et al.
Publicado: (2016)

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)
por: Çelmeli, Gamze, et al.
Publicado: (2017)

A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay
por: Cairns, G., et al.
Publicado: (2021)

Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome
por: Zatyka, Malgorzata, et al.
Publicado: (2023)

New unexpected role for Wolfram Syndrome protein WFS1: a novel therapeutic target for Alzheimer’s disease?
por: Chen, Shuo, et al.
Publicado: (2022)

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex
por: Zenteno, Juan Carlos, et al.
Publicado: (2009)

Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?
por: Ghirardello, Stefano, et al.
Publicado: (2014)

Variants of WFS1 identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report
por: Tang, Yong, et al.
Publicado: (2023)

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
por: Alías, Laura, et al.
Publicado: (2022)

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1
por: Gong, Yingying, et al.
Publicado: (2021)

Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration
por: Plaas, Mario, et al.
Publicado: (2017)

Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila
por: Sakakibara, Yasufumi, et al.
Publicado: (2018)

Osteogenesis Imperfecta Due to Compound Heterozygosity for the LEPRE1 Gene
por: Moul, Adrienne, et al.
Publicado: (2013)

Family reflections: our family’s journey with Wolfram syndrome
por: Lynch, Tracy
Publicado: (2019)

Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family
por: Sheng, Dan, et al.
Publicado: (2023)

Wolfram Syndrome: New Mutations, Different Phenotype
por: Aloi, Concetta, et al.
Publicado: (2012)

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness
por: Zhao, Jing, et al.
Publicado: (2022)

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
por: Sobhani, Maryam, et al.
Publicado: (2020)

A Chinese family with Oguchi’s disease due to compound heterozygosity including a novel deletion in the arrestin gene
por: Huang, Lingli, et al.
Publicado: (2012)

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene
por: Gabbay, Monica, et al.
Publicado: (2017)

Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters
por: Rotsos, Tryfon, et al.
Publicado: (2022)

Correction to: Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report
por: Sobhani, Maryam, et al.
Publicado: (2020)

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment
por: Tsai, Hsun-Tien, et al.
Publicado: (2007)

Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome
por: Galvez-Ruiz, Alberto
Publicado: (2015)

Compound Heterozygosity for Y Box Proteins Causes Sterility Due to Loss of Translational Repression
por: Snyder, Elizabeth, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_gr0hj8n874s193m390fa53sa8k