Cargando…

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

BACKGROUND: Wolfram syndrome (WFS) is a rare disorder characterised by childhood-onset diabetes mellitus and progressive optic atrophy. Most patients have variants in the WFS1 gene. We undertook functional studies of WFS1 variants and correlated these with WFS1 protein expression and phenotype. METH...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hu, Kun, Zatyka, Malgorzata, Astuti, Dewi, Beer, Nicola, Dias, Renuka P, Kulkarni, Archana, Ainsworth, John, Wright, Benjamin, Majander, Anna, Yu-Wai-Man, Patrick, Williams, Denise, Barrett, Timothy
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Genotype-Phenotype Correlations
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685651/ https://www.ncbi.nlm.nih.gov/pubmed/34006618 http://dx.doi.org/10.1136/jmedgenet-2020-107257

Ejemplares similares

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
por: Spiegel, Ronen, et al.
Publicado: (2016)

Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method
por: Almpani, Konstantinia, et al.
Publicado: (2022)

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
por: Burkitt Wright, Emma MM, et al.
Publicado: (2013)

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
por: Lopes, Luis R, et al.
Publicado: (2013)

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
por: McDonald-McGinn, Donna M, et al.
Publicado: (2013)

The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy
por: Liu, Zhong, et al.
Publicado: (2014)

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
por: Hamilton, Alexander J, et al.
Publicado: (2014)

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
por: Ansari, Morad, et al.
Publicado: (2014)

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
por: Alston, Charlotte L, et al.
Publicado: (2012)

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
por: Sharma, Manu, et al.
Publicado: (2012)

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
por: Le Quesne Stabej, Polona, et al.
Publicado: (2011)

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
por: Blanchard, Maxime G, et al.
Publicado: (2015)

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
por: Azzi, Salah, et al.
Publicado: (2015)

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
por: Trump, Natalie, et al.
Publicado: (2016)

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
por: Alston, Charlotte L, et al.
Publicado: (2016)

Molecular findings from 537 individuals with inherited retinal disease
por: Ellingford, Jamie M, et al.
Publicado: (2016)

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
por: Ng, Yi Shiau, et al.
Publicado: (2016)

Genetic Severity Score predicts clinical phenotype in NF2
por: Halliday, Dorothy, et al.
Publicado: (2017)

Mutations in IRS4 are associated with central hypothyroidism
por: Heinen, Charlotte A, et al.
Publicado: (2018)

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family
por: Sheereen, Atia, et al.
Publicado: (2017)

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1
por: Kapplinger, Jamie D, et al.
Publicado: (2017)

AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis
por: Li, Wei, et al.
Publicado: (2016)

Clinical course of sly syndrome (mucopolysaccharidosis type VII)
por: Montaño, Adriana M, et al.
Publicado: (2016)

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
por: Brcic, Lucija, et al.
Publicado: (2020)

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
por: Lokulo-Sodipe, Oluwakemi, et al.
Publicado: (2020)

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
por: Germain, Dominique P, et al.
Publicado: (2020)

ATR-16 syndrome: mechanisms linking monosomy to phenotype
por: Babbs, Christian, et al.
Publicado: (2020)

Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
por: Rasmussen, Andreas Hoiberg, et al.
Publicado: (2020)

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF
por: Lv, Mingrong, et al.
Publicado: (2020)

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
por: Byrne, Alicia B, et al.
Publicado: (2020)

‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations
por: Vakkilainen, Svetlana, et al.
Publicado: (2020)

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end
por: Disciglio, Vittoria, et al.
Publicado: (2020)

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
por: Overbeek, Kasper A, et al.
Publicado: (2021)

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay
por: Berland, Siren, et al.
Publicado: (2022)

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease
por: Nowak, Albina, et al.
Publicado: (2022)

Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality
por: Elpidorou, Marilena, et al.
Publicado: (2021)

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients
por: Fan, Yanbin, et al.
Publicado: (2021)

Haploinsufficiency of the NF1 gene is associated with protection against diabetes
por: Kallionpää, Roope A, et al.
Publicado: (2021)

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
por: Baas, Martijn, et al.
Publicado: (2021)

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
por: Calpena, Eduardo, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_8gbfsl6lh6oevrtqdjdpnqur0f